Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.I329T
Back to variants list

ACTC1

NM_005159.5:p.I329T

Associated Papers

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

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

Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.

Li S et al.

Journal of the American Heart Association, 2018

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

Yoshida Y et al.

Heartrhythm Case Reports, 2016

A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

Tian T et al.

Heart and Vessels, 2015

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."