Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated NeuronsBoth Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution.Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial HypertensionSDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Association of two synonymous splicing-associated CpG single nucleotide polymorphisms in calpain 10 and solute carrier family 2 member 2 with type 2 diabetesMutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.Succession of splicing regulatory elements determines cryptic 5΄ss functionality.Estimating the prevalence of functional exonic splice regulatory information.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Depletion of somatic mutations in splicing-associated sequences in cancer genomes.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.Genetics of intellectual disability in consanguineous families.Saturation mutagenesis reveals manifold determinants of exon definition.Exonic mutations and exon skipping: Lessons learned from DFNA5.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.Identification of genetic variants for clinical management of familial colorectal tumors.Hereditary cancer genes are highly susceptible to splicing mutations.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?Autosomal dominant intellectual disability
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P2860
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@ast
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@en
type
label
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@ast
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@en
prefLabel
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@ast
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@en
P2093
P2860
P50
P1433
P1476
Exonic Splicing Mutations Are ...... cted by Using In Silico Tools.
@en
P2093
Aurélie Drouet
Mario Tosi
Mohamad Hamieh
Stéphanie Baert-Desurmont
Thierry Frébourg
P2860
P304
P356
10.1371/JOURNAL.PGEN.1005756
P577
2016-01-13T00:00:00Z