Varaico: Literature-Extracted Genetic Variants

Gene:MYO3A
Variant:p.R457delFs
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MYO3A

NM_017433.5:p.R457delFs

Associated Papers

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

Maekawa K et al.

Genes, 2025

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

Mohseni M et al.

Clinical Genetics, 2021

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

Bizzari S et al.

European Journal of Medical Genetics, 2020

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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."