ライフサイエンスコーパス: exonic

1 iants, suggesting the causal variant was non-exonic.

2 Many of these mutations were cryptic, either exonic alterations of splice enhancers or silencers or d

3 tructural rearrangements, including in-frame exonic alterations within EGFR and SIK2 kinases.

4 This implies that exonic Alu insertions are generally deleterious and thus

5 lymorphisms with the C57BL/6J (B6) allele--6 exonic and 177 intronic.

6 EG-GWAS identified the associated exonic and 3'UTR variants within the FGF5 and RSPO2 gene

7 timated sensitivity of 86.5% (82% for single-exonic and 88% for multi-exonic calls) and precision of

8 onic calls) and precision of 78% (53% single-exonic and 96% for multi-exonic calls).

9 This is true for both exonic and intronic mutations as well as for perturbatio

10 in MAGI3, occurring in the absence of local exonic and intronic mutations.

11 ites, are distributed evenly across distinct exonic and intronic regions, and are difficult to predic

12 d none have examined possible differences of exonic and intronic SNPs in these studies.

13 g splicing minigenes, we identified multiple exonic and intronic splicing enhancers and silencers tha

14 cation of intronic sequence, loss or gain of exonic and intronic splicing enhancers and silencers, co

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

16 l evidence and filters were applied to multi-exonic and mono-exonic putative genes to yield between 2

17 singleton Alu insertions is constant across exonic and nonexonic regions.

18 Both exonic and novel X-chromosome REs were subject to robust

19 biochemical phenotype, 2 variants in GC--one exonic and one intronic--were associated with serum DBP

20 Combining promoter CpG density with exonic and promoter conservation explains 33.4% of the v

21 sity exceeds the individual contributions of exonic and promoter conservation.

22 plification and bi-directional sequencing of exonic and promoter regions and performed acetylcholine

23 We captured approximately 50 Mb of exonic and transcribed sequences of 3 closely related fa

24 As (lincRNAs), intronic overlapping lncRNAs, exonic antisense overlapping lncRNAs, and precursors for

25 at predicting evolutionarily constrained non-exonic bases from such data.

26 are resources for analyzing constrained non-exonic bases in the genome.

27 r characterize the nature of constrained non-exonic bases with low CNEP scores using additional types

28 ing the reads considered to those which span exonic boundaries.

29 s, rare copy-number variant burden, and rare exonic burden (n = 4936).

30 .5% (82% for single-exonic and 88% for multi-exonic calls) and precision of 78% (53% single-exonic an

31 of 78% (53% single-exonic and 96% for multi-exonic calls).

32 led to two surprising discoveries: (i) many exonic circRNA (EcircRNA) isoforms share an identical ba

33 at, and human opioid receptor genes generate exonic circRNA isoforms.

34 Exonic circular RNAs (circRNAs) are covalently closed RN

35 ic protein-coding genes are able to generate exonic circular RNAs.

36 Of 51 exonic CLCNKA variants identified, one SNP (rs10927887,

37 t target region, we find between 170 and 250 exonic CNV calls per sample.

38 provided an effective means to assess small exonic CNV from whole-exome data, indicated that rare 1-

39 uch data could be used to reliably call rare exonic CNV in the size range of 1-30 kilobases (kb), mak

40 s (total of 55 genes) were enriched for rare exonic CNVs among BD cases, but none of these survives c

41 We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate

42 ther characteristics, and 2) individual rare exonic CNVs and CNV regions.

43 nic alleles by combining point mutations and exonic CNVs in multiple genes.

44 ey anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; o

45 he fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications.

46 Importantly, however, we show that exonic coconversion can only explain diversity gradients

47 patterns of genetic diversity are caused by exonic coconversion, which occurs when introns spread to

48 low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact.

49 oding exons as part of an artificial intron (exonic COINs), greatly simplifying allele design and inc

50 detection of single nucleotide variants and exonic copy number variants in one comprehensive assessm

51 included both single nucleotide variants and exonic copy number variants, such as hemizygous nonsense

52 lity, have 17% lower SSM density compared to exonic cores, even after excluding canonical splice site

53 nical care included high-depth (median 600x) exonic coverage of 410 cancer genes and whole-genome cop

54 t DNA methylation occurred preferentially in exonic CpGs of highly and stably expressed genes involve

55 variants, the method identified 32 potential exonic cryptic splice variants, two of which were experi

56 ative analysis of variant calling methods on exonic data from 202 genes sequenced at 24x in 7,842 ind

57 By examining the exonic de novo and inherited variants from 1,781 ASD qua

58 By retrieving 1725 exonic de novo mutations (DNMs) from 1628 subjects with

59 and the MMP20 synonymous mutation decreased exonic definition of exon 1.

60 d that the AMELX missense mutation increased exonic definition of exon 4 and the MMP20 synonymous mut

61 ce A (P = 3.31 x 10(-12)), with a particular exonic deletion (P = 1.59 x 10(-8)) in full linkage dise

62 An exonic deletion allele (IFNL4-DeltaG) bolsters the estab

63 We previously associated rare, exonic deletion copy number variants (CNV) with recurren

64 hift deletions and insertions in WFS1 and an exonic deletion in CISD2 which all altered the respectiv

65 ants is a rare, previously unreported 2.5 kb exonic deletion in COL4A3.

66 uded a common and sometimes homozygous 61 bp exonic deletion in SLC38A10, three CNVs found in lymphob

67 We identified a spontaneous exonic deletion in the orthologue of MutL-Homolog 3 (HvM

68 ea, we discovered a missense mutation and an exonic deletion in the SLC25A46 gene encoding a mitochon

69 and, most importantly, in a male proband, an exonic deletion of the TMLHE (trimethyllysine hydroxylas

70 and specificity >99% in covered regions) and exonic deletions (100% sensitivity and specificity).

71 find among 22,288 individuals that these HP exonic deletions associate with reduced LDL and total ch

72 hole-exome data, indicated that rare 1-30 kb exonic deletions could contribute to risk in up to 7% of

73 CACNA1A exonic deletions have also been reported in EA2 using qu

74 Recurring exonic deletions in HP likely enhance human health by lo

75 DMD gene mutations (all exonic deletions) were found in 6 of 37,649 newborn male

76 e novo CNVs, including single-exon and intra-exonic deletions, as well as interchromosomal duplicatio

77 For rare exonic deletions, the schizophrenia group had, on averag

78 es as often as common variants, and missense exonic disease mutations that have the least impact on p

79 Bearing a Cre-LoxP induced exonic disruption of the murine Gaa gene, this model is

80 The analysis of exonic DNA from prostate cancers has identified recurren

81 t from cutaneous melanoma, where hundreds of exonic DNA insults are usually detected.

82 Exonic DNA sequence variants in the Tbk1 gene associate

83 which somatic events other than mutations in exonic DNA shape its genetic landscape and define its me

84 terns of nucleotide ordering in intronic and exonic DNA.

85 ting non-exonic variants, we focused on 3334 exonic DNMs for evaluation of their association with the

86 PA2), deletions in or near PRKN or MSR1, and exonic duplications of ATG5.

87 For rare exonic duplications, six of 19 gene sets tested were enr

88 ata also identify an excess of intronic over exonic editing sites.

89 Here we identify a conserved non-exonic element (E4) that acts as a cortex-specific enhan

90 e being in an evolutionarily constrained non-exonic element from an input of over 60,000 epigenomic a

91 assays, we demonstrate that several of these exonic enhancer (eExons) candidates can function as enha

92 and certain histone modifications also show exonic enrichment.

93 is, we compare human-mouse and human-macaque exonic evolutionary rates against experimentally determi

94 Furthermore, our analysis of genes with high exonic expression in brain and low burden of rare mutati

95 hylation level is negatively correlated with exonic expression level, but positively correlated with

96 LASS combines mixture statistical models for exonic feature selection across multiple samples with sp

97 An exonic GAG-repeat motif in these IR regions may function

98 ed fragments, and approximately 42% of multi-exonic genes were alternatively spliced.

99 Exonic genetic variation near each protein's respective

100 the variants were novel, including one multi-exonic homozygous deletion in OTOA.

101 of expression; we also isolated a conserved exonic hox2 enhancer from lamprey that drives segmental

102 restingly, both activities of Tra2 favor the exonic identity of the RNA sequences that encompass its

103 These conserved exonic IES determine alternative transcription products

104 Examples of precise loss of some exonic IES in the micronucleus and retention of others i

105 Exonic intermediate methylation correlates with exon inc

106 ethylation signals associated with upstream, exonic, intronic and downstream genomic loci from A. mel

107 all genomic compartments, such as promoters, exonic, intronic, and intergenic regions.

108 preferential splicing of KIT at the adjacent exonic junction.

109 erefore screened patients without identified exonic lesions for mutations within conserved noncoding

110 DNA FISH, we further show that one of these exonic limb enhancers, Dync1i1 exon 15, has active enhan

111 Analysis by deep sequencing of mouse exonic loci containing A-to-I-editing sites revealed tha

112 The upstream exonic loops of the test substrate promoted recruitment

113 121 exonic LRRK2 variants were assessed in 15 540 individual

114 ce, and large set of SNPs including putative exonic markers associated with rubber related gene homol

115 vival, we analyzed survival effects of tumor exonic missense mutation burden (TEMMB) across 6947 spec

116 hout RTEL1 variants, and the presence of any exonic missense RTEL1 variant was associated with a 42%

117 t liver transplantation, the presence of any exonic missense variant was associated with a longer pos

118 Here we report strict exonic modularity of LRR domains of several human gene f

119 The exonic mutation c.3538G>A causes 3 in-frame splicing var

120 Here we report a low median exonic mutation frequency of 0.60 per Mb (0.48 nonsilent

121 ed in 114 STGD patients with one known ABCA4 exonic mutation revealing, on average, 200 intronic vari

122 er with an intronic MAPT mutation or with an exonic mutation, developed accumulation and extracellula

123 Approximately 10% of exonic mutations altered splicing, mostly by disrupting

124 Absence of exonic mutations and overexpression at the RNA level sug

125 Here, we sought to determine whether LEKTI exonic mutations associated with atopic dermatitis (AD)

126 ching but not exceeding approximately 20,000 exonic mutations in <6 months.

127 Exonic mutations in D6, which previously have been assoc

128 tenin/LEF-1-mediated transcription, displays exonic mutations in human prostate cancer and promotes c

129 lized, hidden mutations in patients who lack exonic mutations in the known disease genes.

130 Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delaye

131 Other exonic mutations on D6 (N368S, V395M, and E420K) and D4

132 by an average mutation burden of 85 somatic exonic mutations per tumor sample.

133 We analyzed 4,964 published disease-causing exonic mutations using a massively parallel splicing ass

134 plex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 se

135 ) data, which are typically used for calling exonic mutations, have also been utilized in detecting D

136 nd in the gene sequence, including two novel exonic mutations: R251L and R396W, leading to substituti

137 equencing, we systematically annotated multi-exonic non-coding RNA (mencRNA) genes transcribed from 1

138 e-associated haploblocks express novel multi-exonic non-coding transcripts that are tissue-specific a

139 h case was characterized by a median of 24.5 exonic nonsynonymous single-nucleotide variations, and t

140 while performing competitively in detecting exonic nucleotides.

141 urred in compound heterozygous state with an exonic OPA1 missense variant (p.I382M; NM_015560.2).

142 ur in splice sites near intron borders or in exonic or intronic RNA regulatory silencer or enhancer e

143 LA without signs of PRA did not identify any exonic or splice site variants, suggesting the causal va

144 tions in yet unknown Usher genes or in extra-exonic parts of the known genes - to date a largely unex

145 nd an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated

146 s (SF2 and Rbp1) that activate splicing from exonic positions were tethered intronically they failed

147 Here we developed the Constrained Non-Exonic Predictor (CNEP) to quantify the evidence of each

148 ilters were applied to multi-exonic and mono-exonic putative genes to yield between 27 000 and 44 000

149 at the overwhelming majority of intronic and exonic RE are expressed in the same orientation as the g

150 Reads that can map to a targeted exonic region are identified using exact matches to tile

151 C repeat expansion from five to seven in the exonic region of the gene for cartilage oligomeric matri

152 70 bp poly-A and an 11 bp duplication of the exonic region preceding the poly-A (XM_548088.6:c.2110_2

153 nymous or stop codon gained) were located in exonic regions (13.04 %) and 294 placed in intronic regi

154 Sequencing studies of exonic regions aim to identify rare variants contributin

155 ted sequencing of genomic DNA amplified from exonic regions and associated splice intron site junctio

156 package to detect differential usage of both exonic regions and splice junctions.

157 WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with va

158 hat increasing the coverage more than 10x in exonic regions does not improve the detection power of t

159 potential of variants in other intronic and exonic regions is often overlooked.

160 he normalized amount of aligned NGS reads in exonic regions of a gene.

161 indel discovery and characterization in the exonic regions of the example sequencing data can be com

162 spite the potentially high impact of CNVs in exonic regions on protein function.

163 Exchanging exonic regions revealed the functional importance of CCK

164 udies (GWAS), we achieve 90% coverage of all exonic regions using stringent design criteria.

165 Exonic regions were captured and sequenced using a next-

166 ovel somatic retrotransposon insertions into exonic regions, including an insertion into an exon of t

167 given the high number of SNPs identified in exonic regions, this strategy represents an important to

168 oci included promoter, 5'-UTRs, upstream and exonic regions.

169 hole genome, genic, intergenic, intronic and exonic regions.

170 ach v2.0), with an average of 53% located in exonic regions.

171 ng that ~80% of mutations overlap in covered exonic regions.

172 ia upon exposure to Microcystis primarily in exonic regions.

173 ariant detection did not report 94.2% of the exonic repeat length variations in part because the alig

174 urprisingly, 2.4% of the 10,395 X chromosome exonic REs were present in mature sperm.

175 ynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL2

176 ween a approximately 25-kDa protein and this exonic residue of pre-mRNAs in the arrested bud31 null s

177 repression accompanied by the assembly of an exonic ribonucleoprotein complex with a tightly bound U1

178 otides in both translated and non-translated exonic RNA sequences.

179 many genes were more abundant than standard exonic RNAs.

180 ster, evidence for association was found for exonic RVs (p = 0.02 in families, p = 0.28 in NOMAS), wh

181 upstream and a predominantly single-stranded exonic segment downstream.

182 Additionally, the exonic segments flanking the retained introns appeared t

183 erparts, suggesting that base-pairing in the exonic segments upstream of retained introns could be a

184 ne tracts located 5' to the alphaCP-enhanced exonic segments.

185 While many DERs annotated to non-exonic sequence (41.1%), most were similarly regulated i

186 and displays a cityscape graphic summarizing exonic sequence at each position.

187 cers of their neighboring genes and that the exonic sequence is necessary for enhancer activity.

188 anscript involved a lineage-specific gain of exonic sequence with no homology to protein coding seque

189 rcular RNA molecules that typically comprise exonic sequences and are spliced at canonical splice sit

190 ified, and the evolution of the intronic and exonic sequences in the nucleus is described.

191 To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcript

192 The intronic repeats and exonic sequences must collaborate with one another, and

193 tional RBP-binding sites within intronic and exonic sequences of regulated pre-mRNA.

194 ity and test that the interaction with these exonic sequences promotes exon skipping.

195 ' splice site-bound U1 snRNA and neighboring exonic sequences that, in turn, inhibit stable associati

196 e sets, significantly more acquired and lost exonic sequences were detected in wheat than in model gr

197 repeats (160R) flanked by human intronic and exonic sequences.

198 1 promoter introns was conferred by promoter exonic sequences.

199 ticular, correspond to alternatively-spliced exonic sequences.

200 of proteomes by the alternative selection of exonic sequences.

201 WAS of these biomarkers (n=2640) followed by exonic sequencing and genotyping.

202 This study demonstrates that exonic sequencing datasets, collected both in population

203 eted Sequencing Study, we performed targeted exonic sequencing of SCN5A (n=3699, European ancestry in

204 Analysis of 86,158 exonic single nucleotide polymorphisms that passed genot

205 ia to investigate the relationship of 11 630 exonic single-nucleotide polymorphisms (SNPs) and 43 cop

206 We identified 75 shared exonic single-nucleotide polymorphisms between Cpc-PH an

207 sm risk, we generated a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number

208 Seq run, we identified multiple intronic and exonic single-nucleotide variations (SNVs), including on

209 In total, 4 exonic, single-gene deletions were validated in schizoph

210 e individuals and uncovered more than 10,000 exonic sites where the RNA sequences do not match that o

211 nizes a GGA-centered motif enriched in RBM10 exonic sites with high affinity and specificity and test

212 We further show that an exonic SNP associated with risk induces changes in super

213 hree single nucleotide polymorphisms (SNPs), exonic SNP rs12422149 and intronic SNPs rs1789693 and rs

214 The association between exonic SNP rs12422149 and TTP in patients treated with A

215 Ps from dbSNP and genotypes determined by an exonic-SNP array.

216 ering and principal component analyses using exonic SNPs consistently revealed two genetic clusters,

217 work highlights the importance of functional exonic SNPs for studying population genetic pattern in a

218 The nonsynonymous exonic SNPs in SETDB2 and CDH26 which were co-localized

219 Examining burden scores from singleton exonic SNPs predicted to be deleterious indicated that c

220 Pairwise D analysis for exonic SNPs showed that the two populations were signifi

221 In this study, exonic SNPs, suitable for measuring mature mRNA levels a

222 d for five of these genes using other linked exonic SNPs.

223 cer and identified approximately 900 somatic exonic SNVs that disrupt splicing.

224 These analyses identified a low exonic somatic mutation rate (0.31 non-silent events per

225 These analyses revealed a mean exonic somatic mutation rate of 12.0 events/megabase and

226 This ratio is controlled by an exonic splice enhancer in exon 12 and its associated spl

227 Analysis of exon 12 sequences identified an exonic splice enhancer that binds serine arginine splici

228 nsistent with a role in splicing modulation, exonic splice enhancers have a lower SSM density before

229 attributable to nonsense-mediated decay and exonic splicing elements.

230 This regulation involves an exonic splicing enhancer (ESE) in exon 12 of the mRNA.

231 In this study, an exonic splicing enhancer (ESE) in the nucleotide (nt) 35

232 in a previously identified set of hexameric exonic splicing enhancer (ESE) sequences compared to the

233 o the LINE1 insertion the inactivation of an exonic splicing enhancer (ESE) within exon 6 is required

234 e exonic splicing silencer (ESS3a/b), and an exonic splicing enhancer (ESE3).

235 sequence of CA(G/C/A)CC(C/A) as a potential exonic splicing enhancer for these SRSF3-regulated exons

236 thereby altering the recognition of specific exonic splicing enhancer motifs to drive recurrent mis-s

237 e sequencing led to the identification of an exonic splicing enhancer mutation in exon 7 of CIZ1 (c.7

238 g of the central RNA recognition motif to an exonic splicing enhancer sequence, a phenomenon reversed

239 ysis revealed that Ins44 disrupts a putative exonic splicing enhancer that allows for skipping of exo

240 targeted to the cryptic branch point and an exonic splicing enhancer, U7.BP + 623, was the most effe

241 HIN1 bound to a GAA-repeat, Exonic Splicing Enhancer-like RNA motif enriched in flan

242 5' splice site, cryptic branch point and an exonic splicing enhancer.

243 ne of these SNPs, rs10185378, is a predicted exonic splicing enhancer; significant alteration in the

244 Exonic splicing enhancers (ESEs) are enriched in exons r

245 ns that promote exon inclusion by binding to exonic splicing enhancers (ESEs).

246 differences in U1 binding or the density of exonic splicing enhancers but may be partially attribute

247 Examining exonic splicing enhancers found near the splice junction

248 tural features that regulate the exposure of exonic splicing motifs across the transcriptome is not c

249 eral protein factors that predominantly bind exonic splicing motifs.

250 We present a large-scale characterization of exonic splicing mutations using a new technology that fa

251 ar-splice site synonymous mutations changing exonic splicing regulators and those within frontal cort

252 termine rates of loss or gain of known human exonic splicing regulatory (ESR) sequences associated wi

253 in somatic tissues due to the function of an exonic splicing silencer (ESS) complex present on the 5'

254 An exonic splicing silencer (ESS) in the HPV18 nt 612 to 63

255 ntronic splicing silencer (ISS), a bipartite exonic splicing silencer (ESS3a/b), and an exonic splici

256 repetitive GAA motif was identified to be an exonic splicing silencer that controls red light-respons

257 -F1 regulate alternative splicing through an exonic splicing silencer to control splicing machinery a

258 e; however, a C-->T substitution converts an exonic-splicing enhancer (ESE) to a silencer (ESS), caus

259 These results suggest that disruption of exonic stem-loop structures immediately upstream (but no

260 ance in Man (OMIM) genes of up to 0.86 using exonic sub-regions and 0.91 using sub-regions defined by

261 ned with our previous method that identifies exonic tags for GMAS, this study yielded 622 GMAS exons.

262 viduals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were

263 ying two alternative promoters, one intronic/exonic, to generate two sequence-overlapping but functio

264 ined a stringent set of 1133 noncoding multi-exonic transcripts expressed during embryogenesis.

265 q on 21 human tissues to identify 1775 multi-exonic transcripts from 561 intronic and intergenic hapl

266 lated RNAs and the expression of large multi-exonic transcripts.

267 hat completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene coul

268 changed the relative proportions of intronic/exonic/untranslated RNA captured by RNA-seq for most gen

269 We examined rare exonic variant associations in ADAMTS13 in 1609 individu

270 aneurysms (IAs) in Nunavik Inuit revealed an exonic variant under weak negative selection to be signi

271 The rs2230926 exonic variant was associated with an increased risk for

272 V6 in 4405 childhood ALL cases identified 31 exonic variants (four non-sense, 21 missense, one splice

273 We identify 12 exonic variants (one stop-gain, five missense and six sy

274 Four known or predicted pathogenic exonic variants (p.R126W, p.K216K, p.Q368* and p.T419A)

275 pands the diagnostic tools for detecting non-exonic variants and provides examples of intronic loss-o

276 Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadC

277 CDI and AAD subjects were determined by MBL2 exonic variants B, C, and D and the haplotypes (LYPB, LY

278 Rare nonsynonymous exonic variants can now be efficiently genotyped, allowi

279 identified and tested 111,592 nonsynonymous exonic variants for association with behavioral disinhib

280 Examination of intronic and exonic variants found using whole-genome sequencing of i

281 gh-coverage exome-sequencing, we studied the exonic variants in 1265 individuals from the Rotterdam s

282 esting, we strengthen the evidence that rare exonic variants in the ARC (p = 4.0 x 10(-4)) and NMDAR

283 ssion of genes with and without heterozygous exonic variants in the same cells.

284 structure to explore whether relatively rare exonic variants influence the burden of depressive sympt

285 SCARB1 exonic variants often result in diminished function of t

286 ent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization.

287 Analysis of more than 650,000 intronic and exonic variants revealed widespread patterns of mutation

288 an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigene

289 In the discovery cohort, rare exonic variants that segregated in multiple affected ind

290 fied from RNA-seq, and comparable numbers of exonic variants were identified in RNA-seq and WES.

291 Seventeen coding exonic variants were significantly associated with disea

292 These results suggest that exonic variants with large effect sizes are unlikely to

293 mes Project database of 1092 individuals for exonic variants within 3 sarcomere genes MHY7, MYBPC3, a

294 n P=.043, and Asian P=.027), suggesting that exonic variants within this gene modify AD susceptibilit

295 After eliminating non-exonic variants, we focused on 3334 exonic DNMs for eval

296 Comprehensive genotyping of exonic variation combined with single-variant and gene-b

297 he allosteric-like/far-reaching effect of an exonic variation on pre-mRNA splicing that is mediated b

298 -wide screens for CNVs, common variation and exonic variation--are converging on similar sets of path

299 We combined our exonic variations with the results of 79 previously publ

300 ine/arginine rich (SR) proteins tended to be exonic whereas heterogeneous ribonucleoprotein (hnRNP) r