Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.G253S
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ACTA1

NM_001100.4:p.G253S

Associated Papers

Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.

Garg A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility.

Garg A et al.

Biorxiv : the Preprint Server for Biology, 2024

A new mutation in the ACTA1 gene possibly associated with dilated cardiomyopathy without concomitant myopathy.

Díaz Expósito A et al.

Revista Espanola De Cardiologia (english Ed.), 2022

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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."