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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTN2

Variant:p.E310K

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ACTN2

NM_001103.4:p.E310K

hg38:chr1:236739353 G>A

Associated Papers

Graded titin cleavage progressively reduces tension and uncovers the source of A-band stability in contracting muscle.

Li Y et al.

Elife, 2020

33357376 (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."