Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.P89H
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COCH

NM_004086.3:p.P89H

Associated Papers

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

Oh KS et al.

Human Genetics, 2022

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Robijn SMM et al.

Biomolecules, 2022

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.

Verdoodt D et al.

Hearing Research, 2021

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.

Parzefall T et al.

Wiener Klinische Wochenschrift, 2018

Detailed hearing and vestibular profiles in the patients with COCH mutations.

Tsukada K et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

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

Bae SH et al.

Human Mutation, 2014

Etiology of unilateral hearing loss in a national hereditary deafness repository.

Dodson KM et al.

American Journal of Otolaryngology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."