Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A110V
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ACTC1

NM_005159.5:p.A110V

Associated Papers

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes.

Hrazderova H et al.

Frontiers in Genetics, 2025

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

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.

Piekutowska-Abramczuk D et al.

Genes, 2022

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

Targeted next-generation sequencing in Slovak cardiomyopathy patients.

Nagyova E et al.

Bratislavske Lekarske Listy, 0

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