Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.R205*
Back to variants list

MYO6

NM_004999.4:p.R205*

Associated Papers

Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

Raghuvanshi R et al.

Genetic Testing and Molecular Biomarkers, 2024

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

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Frohne A et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Morgan A et al.

Genes, 2020

A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.

Kim BJ et al.

The Journal of Gene Medicine, 2018

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Sampaio-Silva J et al.

Annals of Human Genetics, 2018

Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics.

Miyagawa M et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.

Chang MY et al.

Korean Journal of Audiology, 2014

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Choi BY et al.

Plos One, 2013

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."