Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.V92D
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COCH

NM_004086.3:p.V92D

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

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

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

First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.

Basu A et al.

Head and Neck Pathology, 2020

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.

Gu X et al.

Neural Plasticity, 2016

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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."