Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.A185Splc
Back to variants list

MYO6

NM_004999.4:p.A185Splc

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

Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.

Alimardani M et al.

Fetal and Pediatric Pathology, 2019

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

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

Cheng J et al.

Annals of Human Genetics, 2014

A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.

Volk AE et al.

Audiology & Neuro-otology, 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."