Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.R621C
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ACTN2

NM_001103.4:p.R621C

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-7
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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."