Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.I343M
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ACTA1

NM_001100.4:p.I343M

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc1.pdf

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

Clayton JS et al.

Human Mutation, 2024

An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met.

Kim H et al.

Stem Cell Research, 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."