Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.L299M
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ACTG1

NM_001614.5:p.L299M

Associated Papers

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

Bookwalter CS et al.

The Journal of Biological Chemistry, 2006

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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."