Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.Y220S
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ACTC1

NM_005159.5:p.Y220S

Associated Papers

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.

Takasaki A et al.

Pediatric Research, 2018

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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."