Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.R2728C
Back to variants list

MYO15A

NM_016239.4:p.R2728C

Associated Papers

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Hirsch Y et al.

European Journal of Human Genetics : Ejhg, 2021

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

Zhang J et al.

Bmc Medical Genetics, 2019

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

Manzoli GN et al.

Annals of Human Genetics, 2016

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."