ライフサイエンスコーパス: intronic

1 4 (rs11105306, pooled P = 1.02 x 10(-16)) is intronic.

2 ng a mouse model engineered with a noncoding intronic 10 bp deletion (del10) in Hgf Male and female m

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

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

5 We created intronIC, a program for assigning intron class to all in

6 We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor co

7 nd genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication facto

8 her evidence for the dominance of the mutant intronic allele.

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

10 We focused on intronic Alu variants mapping within 100 bp of an altern

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

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

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

14 In both mouse and chicken, SOX9 bound to intronic and distal regions of genes more frequently in

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

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

17 sease-causing potential of variants in other intronic and exonic regions is often overlooked.

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

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

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

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

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

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

24 ircRNAs harbor novel exons derived from both intronic and intergenic sequences.

25 iple types of RNAs that are transcribed from intronic and intergenic sequences.

26 erentially used heart failure enhancers were intronic and primarily localized within the first intron

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

28 ge, named APAlyzer, for examining 3'UTR APA, intronic APA and gene expression changes using RNA-seq d

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

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

31 Effect sizes at intronic apaQTLs are negatively correlated with eQTL eff

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

33 elete candidate REs, we showed that a strong intronic bipartite RE selectively governs Cacna1g expres

34 Mutant SF3B1 recognizes an aberrant, deep intronic branchpoint within BRD9 and thereby induces the

35 These data lead us to conclude that an intronic C-rich determinant enforces functional splicing

36 The intronic C9orf72 G4C2 expansion, the most common genetic

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

38 CNBP, the gene containing an intronic CCTG microsatellite expansion in DM type 2 (DM2

39 ar non-coding RNAs in metazoans, called tRNA intronic circular (tric)RNAs.

40 Silencing of this intronic circular RNA in pancreatic islets leads to a de

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

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

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

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

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

46 roach, we explored a clinically translatable intronic CRISPR (clustered regularly interspaced short p

47 In addition, we identified the intronic CRISPR repair as a personalized and in our view

48 The mutant intronic CUG RNA is present at one-two copies per cell,

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

50 transcript is dependent on the actions of an intronic cytosine (C)-rich splice regulatory determinant

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

52 The common intronic deletion, MYBPC3(Delta25), detected in 4% to 8%

53 These pathogenic intronic deletions spare all consensus splice motifs, th

54 pathogenic non-coding splice variant due to intronic deletions.

55 Intronic disease mutations that are more than 30 nucleot

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

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

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

59 ntified a novel association of rs11693320-an intronic DPP10 SNP-with FVC when incorporating an intera

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

61 normal splicing, arguing against loss of an intronic element as the primary causal basis.

62 segment (DQ52), four J(H) segments, and the intronic enhancer (iEmu)(5).

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

64 ture of Snorc and revealed dependency on the intronic enhancer binding of SOX9 for transcription.

65 The +9.5 intronic enhancer harbors multiple conserved cis-element

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

67 , we report a bimodal activity in the Mettl1 intronic enhancer with components responsible for PTH-me

68 uring Treg differentiation, a CpG-rich Foxp3 intronic enhancer, conserved noncoding sequence 2 (CNS2)

69 activate CD73 transcription by binding to an intronic enhancer.

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

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

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

73 and recruits it primarily to intergenic and intronic enhancers.

74 s of splice enhancers or silencers or deeply intronic events.

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

76 fixation changed the relative proportions of intronic/exonic/untranslated RNA captured by RNA-seq for

77 t of T(reg) cell differentiation required an intronic Foxp3 enhancer, the conserved noncoding sequenc

78 e sequencing, we identified loss-of-function intronic fusion events in one SMARCB1 allele with concur

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

80 ortholog of the Drosophila melanogaster Vasa intronic gene (VIG), is required for this process.

81 -chondrogenic progenitors - by binding to an intronic GGAA-microsatellite, which promotes EwS growth

82 Here, we show the similar intronic GGCCTG HREs that causes spinocerebellar ataxia

83 An intronic GGGGCC (G4C2) hexanucleotide repeat expansion i

84 Expansion of an intronic (GGGGCC)(n) repeat region within the C9orf72 ge

85 tional transcript isoforms of genes carrying intronic heterochromatin.

86 We report a deep intronic heterozygous STAT3 mutation, c.1282-89C>T, in 7

87 Intronic hexanucleotide expansions in C9ORF72 are common

88 Higher levels of retained intronic HOX sequences and lost splicing events in the H

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

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

93 ith respect to motifs, targeting to promoter/intronic intergenic regions and chromatin folding.

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

95 es that eCLIP resolves AQR association after intronic lariat formation, enabling identification of br

96 Excessive intronic length and silencer density tend to delay splic

97 and tumours is produced by exaptation of an intronic LINE-2A (L2A) endogenous retroelement in the CD

98 coding genes, particularly for antisense and intronic lncRNAs.

99 hat was initially overlooked due to its deep-intronic location.

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 We used an intronic Minos-Mediated Integration Cassette to determin

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

109 Intronic miR-374b and miR-545 inhibited tumor suppressor

110 Furthermore, intronic miR-421 may exert an autoregulatory effect on m

111 XR) activators promote the expression of the intronic miR-7-1 in vitro and in vivo, along with its ho

112 data unveil the intricate interplay between intronic miRNA and their host transcripts in the modulat

113 However, most studies of intronic miRNA focus on individual miRNA, while converse

114 ing of a long noncoding RNA FTX and multiple intronic miRNA, was highly upregulated in cancer, and co

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

116 ss this, we performed systematic analyses of intronic miRNA:host loci in colon cancer.

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

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

119 Transgenic mice carrying the intronic multimerized enhancer drove high expression of

120 3A mutation carriers presented the same deep-intronic mutation (c.1909+22G>A), which activates a cryp

121 other missense mutation (p.Gly548Ser) and an intronic mutation affecting splicing as demonstrated by

122 Fibroblast studies showed that the intronic mutation causes the activation of a 95 bp pseud

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

124 tructural variant analysis, we identified an intronic mutation in a mitochondrial-associated gene (Mr

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

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

127 airments in hematopoiesis associated with an intronic mutation in GATA1 that is 24 nucleotides upstre

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

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

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

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

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

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

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

135 services should ensure coverage of this deep intronic mutation.

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

137 This is true for both exonic and intronic mutations as well as for perturbations in trans

138 revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels

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

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

141 Two of them were deep intronic mutations resulting in abnormal inclusion of in

142 Synonymous and intronic mutations with predicted splice-altering conseq

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

144 The intronic MYBPC3 c.1224-52G>A variant, which is not routi

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

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

147 s), including those targeting intergenic and intronic non-coding regions that eluded previous exome f

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

149 or each sequence entry and characterizes the intronic parameters including number, size, sequence com

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

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

152 RNA expression levels by increasing usage of intronic PAS.

153 ng U1 and CPA factors (U1-CPAFs), that binds intronic PASs and suppresses PCPA.

154 utations, including the effect of novel deep intronic pathogenic mutations on RTTN transcripts, allow

155 Genetic analyses revealed association of intronic PCSK6 variant rs1531817 with maximum internal c

156 he affected status in all 3 families: a rare intronic PDZD8 c.872+10A>T variant and a novel missense

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

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

159 vered a novel stress-specific cis-element in intronic poly(A) sites used in drought- and heat-stresse

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

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

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

163 , inhibition or loss of CDK12/CDK13 triggers intronic polyadenylation site cleavage that suppresses t

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

165 otype correlates with an increased number of intronic polyadenylation sites, a feature especially pro

166 gths and lower ratios of U1 snRNP binding to intronic polyadenylation sites.

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

168 he spliceosome component U1 snRNP to cognate intronic positions.

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

170 Disruption of these intronic promoters results in striking defects in re-exp

171 segmental duplication of a nearly identical intronic region +2.5 kb downstream of the TSS, and this

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

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

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

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

176 1-rs11084307, P = 1.4 x 10(-6)) covering the intronic region of CACNG8 to be significantly associated

177 8283A > C polymorphism located in the DNMT3A intronic region of chromosome 2p with no impact in messe

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

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

180 s demonstrated that FLRL2 was located in the intronic region of the Arntl gene, and a luciferase assa

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

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

183 functional genetic approach to show that the intronic region spanning rs3780181 exhibited 1.6-7.6-fol

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

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

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

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

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

189 nigene library with degenerate regions in 3' intronic regions (3.4 million individual minigenes) was

190 pproximately half of all miRNA reside within intronic regions and are often cotranscribed with their

191 CL2L11 (BIM), by directly binding to BCL2L11 intronic regions and promoter.

192 R-loops most often map to intronic regions and their individual start and stop pos

193 Intronic regions display a greater enrichment for extrem

194 Single nucleotide variants (SNVs) in intronic regions have yet to be systematically investiga

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

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

197 association study found two variants in the intronic regions of the PSAP saposin D domain (rs4747203

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

199 istributed evenly across distinct exonic and intronic regions, and are difficult to predict a priori.

200 n coding and non-coding exons, as well as in intronic regions, and the mutational pathomechanisms inc

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

202 regions, map to 3'-untranslated regions and intronic regions, share common sequence motifs and overl

203 rons and little is known about the remaining intronic regions.

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

205 s a highly conserved super-enhancer, the fms-intronic regulatory element (FIRE).

206 lacking a conserved Csf1r enhancer: the fms-intronic regulatory element (FIRE).

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

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

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

210 lgorithms identified a recessively inherited intronic repeat expansion [(AAGGG)(exp)] in the gene enc

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

212 w isoform of ACE2, generated by co-option of intronic retroelements as promoter and alternative exon.

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

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

215 The abundance of mutant repeat intronic RNA in Pre_S and FECD_REP tissue is elevated du

216 These studies show that PGC-1alpha binds to intronic RNA sequences, some of them controlling transcr

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

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

219 mall nucleolar RNA and microRNA derived from intronic RNA.

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

221 We demonstrate here that the Drosophila intronic-RPR precursor is trimmed to the mature form by

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

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

224 also highlight the importance of evaluating intronic sequence when a single, definitively pathogenic

225 e or partial exon skipping, exonification of intronic sequence, loss or gain of exonic and intronic s

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

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

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

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

230 otein, Fox-1 homolog 2 (Rbfox2), which binds intronic sequences in front of exon 12 independently of

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

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

233 ge fraction of RNAs bound to PGC-1alpha were intronic sequences of genes involved in transcriptional,

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

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

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

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

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

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

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

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

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

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

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

245 ean haplotype specifically includes the eQTL intronic SNP rs62436463 that must have arisen after the

246 An intronic SNP rs79237970 in the WDR92 (eQTL for PPP3R1) w

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

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

249 Using known pathogenic and neutral intronic SNVs (iSNVs) as training data, we develop the R

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

251 Patients with intronic, splice site, or nonsense DMD mutations, with a

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

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

254 ntronic sequence, loss or gain of exonic and intronic splicing enhancers and silencers, complete intr

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 es, who had RTS type 1 and identified a deep intronic splicing mutation of the ANAPC1 gene, a compone

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

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

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

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

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

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

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

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

266 % confidence interval = 1.06-1.13), which is intronic to PNKD (paroxysmal non-kinesigenic dyskinesia)

267 We find rs679482, intronic to SGCG (sarcoglycan gamma), highly expressed i

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

269 283 (odds ratio (OR)=4.32, P=1.79 x 10(-8)), intronic to transcripts of SLCO1B3 and SLCO1B7, members

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

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

272 An intronic, transposable element within SMOC2 promotes the

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

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

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

276 s to thousands of mRNA precursors, mainly at intronic uridine-rich sequences and affects their splici

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

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

279 ntified significant associations of a common intronic variant in HTRA1, rs2293871 using single varian

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

281 An intronic variant in STAT4 was associated (recessive mode

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

283 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

284 mphoblastic leukemias identified a recurrent intronic variant predicted to cis-activate the TAL1 onco

285 A clear causal candidate is the HERC2 intronic variant rs12913832, which has a profound influe

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

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

288 MX2 (Chr21q22.3), and validate a functional intronic variant, rs398206.

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

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

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

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

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

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

295 Intronic variants of the MYH9 gene that encodes the nonm

296 Two low-frequency intronic variants were associated with estimated glomeru

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

298 s, including copy number variants (CNVs) and intronic variants, as pathogenic, likely pathogenic, or

299 nymous variants), two promoter variants, 133 intronic variants, two 3' UTR variants and 23 intergenic

300 Most of these 36 signals were intronic variants; expression data from blood and lung t