Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.

Item
http://www.wikidata.org/entity/Q35216395
Genetics of vestibular disorders: pathophysiological insightsDifferent 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.Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).Common Genetic Variant in VIT Is Associated with Human Brain Asymmetry.Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.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.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossGenes important for otoneurological diagnostic purposes - current status and future prospects
P2860

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.

Item
http://www.wikidata.org/entity/Q35216395
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Identification of pathogenic m ...... fness and vestibular disorder.
@ast
Identification of pathogenic m ...... fness and vestibular disorder.
@en
type
label
Identification of pathogenic m ...... fness and vestibular disorder.
@ast
Identification of pathogenic m ...... fness and vestibular disorder.
@en
prefLabel
Identification of pathogenic m ...... fness and vestibular disorder.
@ast
Identification of pathogenic m ...... fness and vestibular disorder.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P932
P356
P1433
P1476
Identification of pathogenic m ...... fness and vestibular disorder.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P932