Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.A76T
Back to variants list

COCH

NM_004086.3:p.A76T

Associated Papers

A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation.

Peng Y et al.

Life (basel, Switzerland), 2023

38255649 (PubMed )
Supplement: life-14-00033-s001.zip › life-2734801-supplementary.pdf

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Rim JH et al.

Human Genetics, 2022

34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf

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

35204720 (PubMed )
Supplement: biomolecules-12-00220-s001.zip › biomolecules-1539304-supplementary › biomolecules-1539304-supplementary_.pdf

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Downie L et al.

European Journal of Human Genetics : Ejhg, 2020

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM et al.

Human Genetics, 2016

26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."