Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.L39*
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COCH

NM_004086.3:p.L39*

Associated Papers

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

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

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.

Danial-Farran N et al.

European Journal of Human Genetics : Ejhg, 2021

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Booth KT et al.

Human Genetics, 2020

Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

Mehregan H et al.

Archives of Iranian Medicine, 2019

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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."