Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.S160C
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MYO7A

NM_000260.4:p.S160C

Associated Papers

Select autosomal dominant DFNA11 deafness variants activate Myo7A targeting in epithelial cells.

Acharya P et al.

Journal of Cell Science, 2025

Select autosomal dominant DFNA11 deafness mutations activate Myo7A in epithelial cells.

Acharya P et al.

Biorxiv : the Preprint Server for Biology, 2024

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.

Watanabe K et al.

Scientific Reports, 2024

38594301 (PubMed )
Supplement: 41598_2024_57415_MOESM1_ESM.pdf

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis.

Yamamoto N et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Nishio SY et al.

Human Mutation, 2017

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI et al.

Plos One, 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."