Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.V607F
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MYO3A

NM_017433.5:p.V607F

Associated Papers

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

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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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."