Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.L349M
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ACTG1

NM_001614.5:p.L349M

Associated Papers

Structural basis for tunable control of actin dynamics by myosin-15 in mechanosensory stereocilia.

Gong R et al.

Science Advances, 2022

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Dawidziuk M et al.

International Journal of Molecular Sciences, 2022

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Sorrentino U et al.

Audiology Research, 2021

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM et al.

Human Genetics, 2016

26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.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."