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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTA1

Variant:p.R118S

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ACTA1

NM_001100.4:p.R118S

hg38:chr1:229432658 G>T

Associated Papers

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Clayton JS et al.

Human Mutation, 2024

40225930 (PubMed )

Supplement: 6496088.f1.docx

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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."