Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.P194T
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MYO3A

NM_017433.5:p.P194T

Associated Papers

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

Maekawa K et al.

Genes, 2025

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

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

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.

Park JH et al.

Orphanet Journal of Rare Diseases, 2014

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

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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."