Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.L144Q
Back to variants list

ACTC1

NM_005159.5:p.L144Q

Associated Papers

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Cardiac troponin mutations and restrictive cardiomyopathy.

Parvatiyar MS et al.

Journal of Biomedicine & Biotechnology, 2010

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."