Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.M271V
Back to variants list

ACTC1

NM_005159.5:p.M271V

Associated Papers

Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.

Mora-Ayestarán N et al.

European Heart Journal, 2025

40878535 (PubMed )
Supplement: ehaf605_supplementary_data.zip › S13._Variant_classification.xlsx › Variant_classification

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Hgg Advances, 2023

37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

Rodríguez-Serrano M et al.

Revista Espanola De Cardiologia (english Ed.), 2014

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM et al.

Circulation. Cardiovascular Genetics, 2010

20530761 (PubMed )
Supplement: 903898_supplemental_material.pdf
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."