Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T231R
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ACTC1

NM_005159.5:p.T231R

Associated Papers

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

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

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families.

Yang QL et al.

Journal of Cardiology, 2019

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

Wang C et al.

Journal of the American Heart Association, 2017

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.

Yoshida Y et al.

Heartrhythm Case Reports, 2016

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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."