Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.V287M
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ACTG1

NM_001614.5:p.V287M

Associated Papers

De novo variants are a common cause of genetic hearing loss.

Klimara MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
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