Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.G488E
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MYO3A

NM_017433.5:p.G488E

Associated Papers

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants.

Elbagoury NM et al.

European Journal of Pediatrics, 2025

The Prevalence and Clinical Characteristics of MYO3A-Associated Hearing Loss in 15,684 Hearing Loss Patients.

Maekawa K et al.

Genes, 2025

Pathophysiology of human hearing loss associated with variants in myosins.

Miyoshi T et al.

Frontiers in Physiology, 2024

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.

Bueno AS et al.

European Journal of Human Genetics : Ejhg, 2022

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Souissi A et al.

Journal of Biomolecular Structure & Dynamics, 2022

Functional Role of Class III Myosins in Hair Cells.

Cirilo JA et al.

Frontiers in Cell and Developmental Biology, 2021

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.

Doll J et al.

Molecular Genetics & Genomic Medicine, 2020

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

Systematic Review of Hearing Loss Genes in the African American Population.

Worden CP et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2019

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Dantas VGL et al.

Scientific Reports, 2018

The genetic basis of deafness in populations of African descent.

Rudman JR et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

Grati M et al.

Human Mutation, 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."