Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.Y1042*
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MYO3A

NM_017433.5:p.Y1042*

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

Myosins and Disease.

Coluccio LM

Advances in Experimental Medicine and Biology, 2020

Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.

Goh G et al.

Plos Medicine, 2016

27923043 (PubMed )
Supplement: pmed.1002136.s018.xlsx › S6_Table

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

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.

Walsh VL et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z et al.

Pediatric Research, 2009

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.

Walsh T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

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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."