ライフサイエンスコーパス: intronic

1 h the C57BL/6J (B6) allele--6 exonic and 177 intronic.

2 4 (rs11105306, pooled P = 1.02 x 10(-16)) is intronic.

3 Moreover, the modest toxicity of intronic 160R expressed at higher temperature correlated

4 Spliced intronic 160R formed nuclear G4C2 sense RNA foci in glia

5 hich explains its known interaction with the intronic 3 site of NUMB exon 9 contributing to regulatio

6 sion of ERBB4-truncated transcripts carrying intronic 5' untranslated regions.

7 analysis suggested 12 new likely pathogenic intronic ABCA4 variants, some of which were specific to

8 lt of a recombination event between flanking intronic Alu sequences.

9 a novel exon, generated by exonization of an intronic Alu-like sequence of SMN.

10 Distal intronic and 3' intergenic loop formations competed with

11 n neuroblastoma cells, we showed that nELAVL intronic and 3' UTR binding regulates human RNA splicing

12 RNA sequencing revealed that PSPC1 binds to intronic and 3'-untranslated regions of a number of adip

13 on signals associated with upstream, exonic, intronic and downstream genomic loci from A. mellifera M

14 atistical patterns of nucleotide ordering in intronic and exonic DNA.

15 discovered that the overwhelming majority of intronic and exonic RE are expressed in the same orienta

16 ation of functional RBP-binding sites within intronic and exonic sequences of regulated pre-mRNA.

17 ing 160 G4C2 repeats (160R) flanked by human intronic and exonic sequences.

18 From the MiSeq run, we identified multiple intronic and exonic single-nucleotide variations (SNVs),

19 A (IVS-AAA) that completely matched both the intronic and exonic U1 binding sequences of the mutated

20 Examination of intronic and exonic variants found using whole-genome se

21 Analysis of more than 650,000 intronic and exonic variants revealed widespread pattern

22 We showed previously that intronic and extragenic enhancers, when occupied by spec

23 ntify 1775 multi-exonic transcripts from 561 intronic and intergenic haploblocks associated with 392

24 ions and sufficient resolution in the larger intronic and intergenic regions to identify copy number

25 SNPs) and associated haplotype blocks are in intronic and intergenic regions, hindering their functio

26 ctions and mapped reads were also found from intronic and intergenic regions.

27 mplify the entire coding region and flanking intronic and regulatory sequences of 88 genes and 40 mic

28 V] rs12614435; p = 6.76 x 10(-18)) comprised intronic and several highly correlated missense variants

29 ding synonymous, 93.3% were noncoding (64.6% intronic), and 3.8% were missense.

30 trend of 3'UTR shortening and activation of intronic APA isoforms.

31 uring LTP, including 3'UTR APA of Notch1 and intronic APA of Creb1.

32 Intronic APA sites activated in depleted cultures were m

33 nign variants in synonymous (AUC = 0.88) and intronic (AUC = 0.83) public datasets, dismissing benign

34 n element that is predominantly found within intronic binding sites and linked to repression of exon

35 iated with the 'missing' +15 mutation at the intronic boundary of exon 10.

36 y of CRISPR-Cas9 and a universal conditional intronic cassette.

37 Of the eight cis-meQTL SNPs, only the intronic CHRNB4 SNP rs11636753 was associated with CHRNA

38 s and sequences, and (ii) thousands of novel intronic circular RNAs (IcircRNAs) are expressed in cell

39 A GATA-2-binding, Gata2 intronic cis-element (+9.5) required for hematopoietic s

40 oncoding sequence 2 (CNS2), a CpG-rich Foxp3 intronic cis-element specifically demethylated in mature

41 re associated with a unique configuration of intronic cis-elements that promote rapid switch-like reg

42 methylated regions, including CNS1 and CNS2, intronic cis-regulatory elements in the Foxp3 locus.

43 In the same animals, methylation of four intronic CpG sites was decreased, amplifying glucose-ind

44 This study examined the influence of an intronic CRHR1 gene variant, rs110402, on brain response

45 signal for rs1358071 within the MAPT region (intronic=CRHR1, p=4.91x10(-7)) with the effect allele ta

46 h FECD, the strongest association is with an intronic (CTG.CAG)n trinucleotide repeat expansion in th

47 We detected an association between an intronic CXCR3 polymorphism, rs2280964, and SPTB in infa

48 y binds in vivo to an Arx enhancer and to an intronic CXCR7 enhancer that remains active in mature in

49 The major G allele of rs12041331, an intronic cytosine guanine dinucleotide-single-nucleotide

50 cursor protein (APP) duplication and a BACE2 intronic deletion) and 3/12 non-synonymous DNVs (in PSEN

51 Exclusion of small intronic deletions left 33 intergenic breaks in G089 and

52 Intronic disease mutations that are more than 30 nucleot

53 of denatured dsDNA, in which Zn(2+)-tolerant intronic DNA provides annealing protection on otherwise

54 These results suggest that certain intronic DNA sequences play unexpectedly large roles in

55 binding, factors that target intergenic and intronic DNA, and factors with distinct chromatin state

56 The intronic DNMT3B rs910083-C allele (frequency=44-77%) was

57 This intronic domain functioned both in cell lines and in viv

58 ChIP analyses, we show that SOX2 binds to an intronic domain of the PTCH1 locus to regulate PTCH1 exp

59 he interaction of multiple domains including intronic domains are involved in expression of FUS.

60 overlapping an evolutionary constrained Tst intronic element and the other residing in the seed regi

61 ractions between the promoter and cis-acting intronic elements including enhancers, which are also de

62 resolution maps of branch-site sequences and intronic elements on a genomic scale.

63 is suppressed in CHF via inhibition of AT2R intronic enhancer activity, leading to lowered muscle re

64 ression is driven through a highly conserved intronic enhancer element by the transcription factors P

65 eceptor exon 11 inclusion, which requires an intronic enhancer element downstream of exon 11.

66 Daughterless protein binds to an intronic enhancer in the expanded gene, both activating

67 analysis revealed that TFAP2C binding to an intronic enhancer is required for activation of Cdx2 exp

68 SR100/SRRM4, through its binding to adjacent intronic enhancer motifs.

69 An inactive chromatin at the intronic enhancer of Runx1 in absence of HIRA significan

70 The IgH intronic enhancer region Emu is a combination of both a

71 slands and were unexpectedly associated with intronic enhancer regions defined in normal B cells and

72 tat5 recruitment to the IL10 promoter and an intronic enhancer regulate gene expression.

73 within the intron, and movement of putative intronic enhancer sequences to multiple promoter-proxima

74 We previously identified an intronic enhancer variant in the RET gene disrupting SOX

75 elements in the vicinity of a known complex intronic enhancer.

76 activate CD73 transcription by binding to an intronic enhancer.

77 onfiguration is the insertion of specialized intronic enhancers between polypyrimidine tracts and acc

78 Here we show that the intronic enhancers of both the ponli and crb2b genes are

79 Within the TAD, intronic enhancers recruit cell-type selective transcrip

80 ments and is regulated by cell-type-specific intronic enhancers, which loop to the promoter in the ac

81 athyroid hormone through both intergenic and intronic enhancers.

82 ore highly methylated than their neighboring intronic environment.

83 ley employing two alternative promoters, one intronic/exonic, to generate two sequence-overlapping bu

84 We show that the intronic Foxp3 enhancer conserved noncoding sequence 3 (

85 expansion of the trinucleotide GAA within an intronic FXN RNA.

86 An intronic GGGGCC (G4C2) hexanucleotide repeat expansion i

87 Intronic hexanucleotide expansions in C9ORF72 are common

88 We further uncover an intronic human mutation within a PTBP1-binding site that

89 These are rs3217810 intronic in CCND2 (12p13.32; OR = 1.19, P = 2.16 x 10(-1

90 gle nucleotide polymorphism (SNP; rs4888378, intronic in CFDP1) in Progressione della Lesione Intimal

91 nd functional validation identified a common intronic indel, rs144361550 (-/GGGCCC; r(2) = 0.947 with

92 ch IL-1R1 gene expression is disrupted by an intronic insertion of a loxP flanked disruptive sequence

93 nditional alleles in zebrafish by generating intronic insertions via in vivo homologous recombination

94 ing disease by disruption of a long-distance intronic interaction controlling alternative splicing.

95 e differentiation, the preferred targets are intronic/intergenic sequences with enhancer-like activit

96 In addition, bias against intronic L1 insertions sense oriented relative to their

97 or the synthesis of branched RNAs that mimic intronic lariat RNA intermediates.

98 Excessive intronic length and silencer density tend to delay splic

99 us, thereby classifying PCA3 as an antisense intronic long noncoding (lnc)RNA.

100 errant transcripts is promoted by endogenous intronic long terminal repeats.

101 non-exonic variants and provides examples of intronic loss-of-function variants with pathological rel

102 tly, since miCLIP data reveal Sxl as a major intronic m(6)A target, and female-specific Sxl splicing

103 found that FTLD-Tau neurons, either with an intronic MAPT mutation or with an exonic mutation, devel

104 at PIM3 repression is mediated by miR-33, an intronic microRNA encoded within the SREBP loci, the exp

105 The intronic microRNAs miR-33a and miR-33b, located within t

106 Here, we describe a novel method based on intronic MiMIC insertions described in Nagarkar-Jaiswal

107 d novel exchange cassettes to convert coding intronic MiMIC insertions into gene-specific binary fact

108 exchange cassettes available for non-coding intronic MiMIC insertions.

109 im-trained mice, upregulation of miR-423-5p (intronic miR) and its host gene, NSRP1, is driven by an

110 en the expression of CDK4/6 and miR-149* and intronic miRNA-6883-5p encoding the clock gene PER1 in c

111 ty at promoters, rather than piggybacking of intronic miRNAs on sex-biased protein-coding genes.

112 suggests that the production of non-stop and intronic mRNA isoforms may represent a form of negative

113 3A mutation carriers presented the same deep-intronic mutation (c.1909+22G>A), which activates a cryp

114 First, we unravelled a deep intronic mutation 364 base pairs 3' of exon 4b in OPA1 b

115 three additional families carrying this deep intronic mutation and a base exchange four nucleotides u

116 Our results identify an intronic mutation as the molecular basis for a RNA splic

117 For example, there are known cases where an intronic mutation disrupts the splicing of not only the

118 We describe a deep intronic mutation in adult polyglucosan body disease.

119 The most frequent genetic cause of LCA is an intronic mutation in CEP290 (c.2991 + 1655A > G) that cr

120 l patients and FTD patients with the 10 + 16 intronic mutation in MAPT.

121 hotoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, whic

122 We identified a deep intronic mutation in this allele, GBE1-IVS15+5289_5297de

123 We discovered that XLPDR is caused by an intronic mutation that disrupts the expression of POLA1,

124 ath, which we confirmed by correction of the intronic mutation with CRISPR/Cas9.

125 equencing (WGS) identified a homozygous deep intronic mutation, c.254-649T > G, predicted to generate

126 ized mutant Cep290 mouse model, carrying the intronic mutation, showed a statistically significant re

127 We identified the deep intronic mutation, which acts as a gene trap.

128 ns, two are frame shift mutations and one is intronic mutation.

129 in POLR3A-related syndromes, especially when intronic mutations are present, and thus can no longer b

130 de genetic and functional evidence that deep intronic mutations in OPA1 can cause optic atrophy and e

131 The first intronic mutations in the intron 1 GATA site (int-1-GATA

132 Here we describe recurrent activating intronic mutations of LMO2, a prominent oncogene in T-ce

133 occurring in the absence of local exonic and intronic mutations.

134 We registered only a handful of conserved intronic ncRNAs of flowering plants.

135 n, and variant rs16846053 affects a putative intronic NFAT5 DNA binding motif.

136 bust to deletion of any intergenic or deeply intronic non-coding region, indicating that proximal reg

137 netic mechanisms in optic neuropathies: deep intronic OPA1 mutations, which explain the disease in se

138 n studies (GWAS) appear to be located within intronic or intergenic regions, which makes it difficult

139 nduced ISCU expression through binding to an intronic p53-binding site.

140 ave previously reported that the use of this intronic PAS depends on the nuclear polyadenylation fact

141 ankyrin yet promotes termination at the weak intronic PAS of the MAP kinase dlk-1.

142 Deleting the intronic PAS of unc-44 results in increased pre-mRNA pro

143 Removing an intronic PAS results in ectopic expression of the neuron

144 The mini-intronic plasmid (MIP) is an alternative, robust transge

145 y HIPSTR (Heterogeneously expressed from the Intronic Plus Strand of the TFAP2A-locus RNA), a novel l

146 We identify a pPA event at a cryptic intronic poly(A) signal in MAGI3, occurring in the absen

147 Here, we describe that alternative intronic polyadenylation in intron 10 of the gp130 trans

148 e two major transposable elements within the intronic polyadenylation region.

149 Further analysis of intronic polyadenylation revealed that LTR/Gypsy and LTR

150 Here, we identify a key role for an intronic polyadenylation site (PAS) in temporal- and tis

151 ampens transcription termination at a strong intronic polyadenylation site (PAS) in unc-44/ankyrin ye

152 Binding of Sam68 to an intronic polyadenylation site prevents its recognition a

153 Here, we show that a single natural intronic polymorphism in one haplotype affects FLC expre

154 internal exon when placed in a corresponding intronic position in a heterologous reporter.

155 In addition, processing of an alternative intronic promoter of miR-9-5 was validated by 5' RACE PC

156 is revealed a novel GR binding site in a BIM intronic region (IGR) that was engaged only in dexametha

157 The abnormal transcript with the retained intronic region coded a truncated protein that lacked th

158 eased transcription mediated directly by the intronic region containing the rs7554511 C variant.

159 This TCF7L2 intronic region contains several SNPs (rs7901695, rs4506

160 monstrate androgen-induced AR binding in the intronic region of AURKA.

161 1-rs11084307, P = 1.4 x 10(-6)) covering the intronic region of CACNG8 to be significantly associated

162 ssociation signals are present in the TCF7L2 intronic region of Hispanics, one of which is tagged by

163 -nucleotide polymorphism (rs12979860) in the intronic region of interferon-lambda4 (IFNL4) is a stron

164 p (n=436) with confirmation of rs6975107, an intronic region of KCND2 (potassium voltage-gated channe

165 The SNP lies within the intronic region of SLC30A10, another transporter protein

166 -specific responsive element within the 15th intronic region of the HK2 gene, providing evidence of a

167 or depression, and a haplotype located in an intronic region of the L-type voltage-gated calcium chan

168 (formerly SPRY4-IT1), which lies within the intronic region of the SPRY4 gene, is up-regulated in hu

169 zed the histone modification profiles of the intronic region surrounding rs12041331 and identified H3

170 Besides, deletion of intronic region that contains m6A-linked DRACH motifs pa

171 ex-dependent mRNAs contained a 75-nucleotide intronic region that increased the nuclear retention and

172 A single-nucleotide substitution in the intronic region that reduces Pasilla binding and intron

173 he transient receptor potential melastatin 1 intronic region, regulates oxidative phosphorylation and

174 SLIT2 gene, which contains miR-218-1 in its intronic region, was frequently observed in PSCCs, mainl

175 thereby inhibiting excision of the pre-mRNA intronic region.

176 Approximately three quarters of conserved intronic regions among angiosperms and dicots, in partic

177 Intronic regions display a greater enrichment for extrem

178 These three SNPs are located in intronic regions of CADM2, LINGO2 and EP300 which have b

179 into a specific locus in the genome [such as intronic regions of endogenous eukaryotic translation el

180 the nucleus, hybridization predicted against intronic regions of pre-mRNAs was tested and confirmed.

181 AKAP95 binds preferentially to proximal intronic regions on pre-mRNAs in human transcriptome, an

182 ce variants map to non-coding intergenic and intronic regions, and it has been much more challenging

183 hat FTO binds preferentially to pre-mRNAs in intronic regions, in the proximity of alternatively spli

184 The Fms intronic regulatory element (FIRE) within CSF1R is shown

185 The 300 bp Fms intronic regulatory element (FIRE), within the second in

186 nstruct containing elements of the mouse Fms-intronic regulatory element and Csf1r promoter.

187 equire inclusion of the highly conserved Fms-intronic regulatory element for expression.

188 sely define the positions from which certain intronic regulatory sequences increase mRNA accumulation

189 repressive histone methylation marks at the intronic repeat elements in genes such as the Histone 3

190 rosophila laccase2 gene is regulated by both intronic repeats and trans-acting splicing factors.

191 The intronic repeats must base-pair to one another, thereby

192 o prevent exon-skipping, we have targeted an intronic repressor, Element1 (E1), located upstream of S

193 oepithelial- and luminal epithelial-specific intronic retention events.

194 ight into potential mechanisms by which this intronic retroelement may induce transcriptional interfe

195 sociation between the in cis presence of the intronic RNA and GLC7 expression.

196 using mRNA stability measurements as well as intronic RNA expression analysis are consistent with a t

197 ce sites near intron borders or in exonic or intronic RNA regulatory silencer or enhancer elements, a

198 We deleted the novel intronic RNA structure within the GLC7 intron and showed

199 easurements of total and chromatin-bound FLC intronic RNA, a methodology appropriate for analyzing el

200 mall nucleolar RNA and microRNA derived from intronic RNA.

201 n analysis, we detected expression of stable intronic RNAs from the EBV BamHI W repeats that may be p

202 We identified and validated 19 new intronic RNAs via RNA sequencing (RNA-seq) and RT-PCR.

203 In multivariate logistic regression, the intronic rs6021191 variant in nuclear factor of activate

204 The lead SNP at the TSPAN15 locus is the intronic rs78707713 and the lead SLC44A2 SNP is the non-

205 ation in genes that lack noticeable flanking intronic secondary structure.

206 of AID deamination events between the c-myc intronic sequence and inserted S region in different B c

207 g in aberrant OPA1 transcripts with retained intronic sequence and subsequent translational frameshif

208 sion in postselection thymocytes requires an intronic sequence containing an uncharacterized DNase I

209 alternative splicing of RNAs are governed by intronic sequence elements and produce transient lariat

210 Stable intronic sequence RNAs (sisRNAs) have been found in Xeno

211 essed genes associated in trans with a CIITA intronic sequence variant, integrate with CIITA recruitm

212 of the ETS family member ELF1 to a conserved intronic sequence.

213 RNA structures (ncRNAs) are embedded within intronic sequences and are contributing to phenotype and

214 coding the extracellular domain and flanking intronic sequences are inserted into the switch region.

215 These intronic sequences are sufficient for photoreceptor-cell

216 ow that interaction of PTBP1 with downstream intronic sequences can activate natural cassette exons b

217 Intronic sequences encoding tRNA-like structures are not

218 Bimodal exons are flanked by more conserved intronic sequences harboring distinct cis-regulatory mot

219 ovo RNA structure prediction tools to screen intronic sequences in S. cerevisiae and 36 other fungi.

220 unction as a DNA enhancer element within the intronic sequences of Firre.

221 We identify polymorphic promoter and intronic sequences required for FLM expression and splic

222 enerated mice in which the orthologous 10-kb intronic sequences were removed.

223 ic U1 snRNAs that, by targeting nonconserved intronic sequences, might reduce possible off-target eve

224 Integration favored intronic sequences, occurred on all chromosomes, and int

225 merous binding sites were also identified in intronic sequences, our RNA transcriptome sequencing ana

226 le with a dsRNA-specific antibody, including intronic sequences, RNAs with antisense overlap to anoth

227 (iii) detection of primary transcripts with intronic sequences.

228 A transcripts, with particular enrichment at intronic sequences.

229 We find that a human SYCP2L intronic single nucleotide polymorphism (SNP) rs2153157,

230 increased type 2 diabetes risk linked to an intronic single nucleotide polymorphism in CDKAL1 In a m

231 It is an intronic single-nucleotide polymorphism (SNP) on chromos

232 We have recently shown that intronic siRNAs cause chromatin modifications that inhib

233 Rs7692387 is located in an intronic site that modulates GUCY1A3 promoter activity.

234 ent of the histone deacetylase HDAC1 to this intronic site.

235 ood and functional studies have focused on 3 intronic sites only.

236 evels and enables detection of NAD(+)-capped intronic small nucleolar RNAs (snoRNAs), suggesting NAD(

237 nonymous SNP in TMEM173, and rs1642764 is an intronic SNP in ATP1B2, near TP53.

238 SNPs at the remaining three loci include an intronic SNP in FOXP1 at locus 3p13, an intergenic SNP a

239 d use CRISPR mutagenesis to validate that an intronic SNP in prominin regulates its editing levels.

240 Here, we studied the effect of an intronic SNP in SHROOM3, which has previously been linke

241 the more efficiently spliced allele of this intronic SNP in SYCP2L is associated with increased ANM.

242 support a significant association between an intronic SNP in the MMP gene located on chromosome 6 and

243 The intronic SNP rs1077858 was associated with OS in both un

244 contrast to the promoter SNP rs4950928, the intronic SNP rs12141494 in CHI3L1 is associated with ast

245 ved in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8),

246 examined possible differences of exonic and intronic SNPs in these studies.

247 variants in these two regions suggested that intronic SNPs nearby are more strongly associated with d

248 Of the 492 SNPs examined, 4 intronic SNPs of the G protein-coupled kinase 5 (GRK5) g

249 ymorphisms (SNPs), exonic SNP rs12422149 and intronic SNPs rs1789693 and rs1077858, were genotyped in

250 Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), AL

251 In contrast to intronic SNPs, both Bayesian clustering and principal co

252 R sequencing, the method found three cryptic intronic splice variants (one known and two experimental

253 tion, likely due to the action of a putative intronic splicing enhancer present in intron 25, which a

254 minigenes, we identified multiple exonic and intronic splicing enhancers and silencers that regulate

255 These could serve as intronic splicing enhancers.

256 2] and c.920delG [p.Gly307Alafs( *)11]), one intronic splicing mutation (c.1164+5C>T), and six missen

257 ly regulated through a complex network of an intronic splicing silencer (ISS), a bipartite exonic spl

258 sly to a single bipartite motif of the human intronic splicing silencer ISS-N1, which controls surviv

259 n antisense oligonucleotide that targets the intronic splicing silencer N1 (ISS-N1), located downstre

260 ronic variants and illustrate versatility of intronic SSOs that target pseudo-3'ss to modify gene exp

261 Here, we demonstrate that intronic switch RNA acts in trans to target AID to S reg

262 Here, we systematically identified intronic tag variants for genetic modulation of alternat

263 For some cell types intergenic and intronic targets were more frequent whereas in other cel

264 s-regulatory elements, including a noncoding intronic telencephalon enhancer of DCHS1 The functions o

265 Although being intronic, the expansion is translated into five differen

266 omising association at 10p13 with rs10904849 intronic to CUBN (MAF = 0.32, P = 7.01 x 10(-8); OR = 1.

267 The strongest genetic association was intronic to HLA-DQA1 (rs9272622; P = 1.86 x 10-7).

268 % confidence interval = 1.06-1.13), which is intronic to PNKD (paroxysmal non-kinesigenic dyskinesia)

269 t one of the 83 replicated CpGs, cg11024682 (intronic to sterol regulatory element binding transcript

270 283 (odds ratio (OR)=4.32, P=1.79 x 10(-8)), intronic to transcripts of SLCO1B3 and SLCO1B7, members

271 -ethnic CRC risk locus at 10q25 (rs12241008, intronic to VTI1A; P=1.4 x 10(-9)), providing additional

272 novel ERBB4-truncated transcripts displaying intronic transcription start sites.

273 s translation is initiated from a conserved, intronic translation start site.

274 An intronic, transposable element within SMOC2 promotes the

275 a genetic disease caused by expansion of an intronic trinucleotide repeat in the frataxin (FXN) gene

276 interactions are frequently localized to the intronic U-rich polypyrimidine tracts (PPT) located 5' t

277 omplete nascent transcriptome; it is rich in intronic unprocessed transcript, as well as long interge

278 mCpG provides a stable record of exonic and intronic usage, whereas H3K36me3 is dynamic.

279 locus at chromosome 16q21 represented by an intronic variant (rs74019828) in the CSNK2A2 gene (beta=

280 An intronic variant in ANKRD55, rs6859219, is a genetic ris

281 dentified a previously unreported pathogenic intronic variant in CHM in two males with choroideremia.

282 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyr

283 mon variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 x 10(-6)), and rs77001

284 fies and validates the role of rs9828519, an intronic variant in SLC9A9, in IFNbeta-treated subjects,

285 An intronic variant in STAT4 was associated (recessive mode

286 blished GWAS of HTS, we report that a common intronic variant in the CSMD1 gene is associated with re

287 08 95% CI 1.05-1.11, Pmeta=3.12 x 10-10), an intronic variant in the SMAD3 gene, which is known to pl

288 ifferent polyadenylation sites, including an intronic variant that codes for a protein isoform contai

289 round of exome sequencing revealed a single intronic variant therein (c.2885+8A>G [p.Ser963( *)] in

290 fibroblasts cultured from a patient with an intronic variant to determine the impact of the mutation

291 We provide evidence that an intronic variant, rs6910730(G) , in TREM1, is associated

292 breaks, demonstrate functional plasticity of intronic variants and illustrate versatility of intronic

293 isms will be key to defining the role of the intronic variants and non-coding RNA for pain in patient

294 onal genomes.While non-coding synonymous and intronic variants are often not under strong selective c

295 a sets we observe significant association of intronic variants in ARHGAP15 (Rho GTPase-activating pro

296 pastic ataxia family turned our attention to intronic variants in POLR3A, a gene previously associate

297 Intronic variants of the MYH9 gene that encodes the nonm

298 Two intronic variants were suggestively associated: rs983977

299 ons, resulting in overlooking synonymous and intronic variants when searching for disease risk.

300 notype, 2 variants in GC--one exonic and one intronic--were associated with serum DBP concentrations