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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTN2

Variant:p.E310A

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ACTN2

NM_001103.4:p.E310A

hg38:chr1:236739354 A>C

Associated Papers

The structure and regulation of human muscle α-actinin.

Ribeiro Ede A et al.

Cell, 2014

25433700 (PubMed )

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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."