Varaico: Literature-Extracted Genetic Variants

Gene:CEP131
Variant:p.R478M
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CEP131

NM_014984.4:p.R478M

Associated Papers

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

Zhu M et al.

American Journal of Human Genetics, 2003

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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."