Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
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Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese FamilyDifferent Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.The promise of whole-exome sequencing in medical genetics.Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next-generation sequencing applied to rare diseases genomics.Bioinformatics in otolaryngology research. Part one: concepts in DNA sequencing and gene expression analysis.Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Distinct vestibular phenotypes in DFNA9 families with COCH variants.Detailed hearing and vestibular profiles in the patients with COCH mutations.
P2860
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P2860
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@en
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@nl
type
label
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@en
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@nl
prefLabel
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@en
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@nl
P2093
P2860
P356
P1433
P1476
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
@en
P2093
P2860
P304
P356
10.1111/CGE.12006
P577
2012-10-04T00:00:00Z