Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.E592_Q593Splc
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MYO3A

NM_017433.5:p.E592_Q593Splc

Associated Papers

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

Maekawa K et al.

Genes, 2025

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

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

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.

Qu R et al.

International Journal of Pediatric Otorhinolaryngology, 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."