Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.T68N
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ACTC1

NM_005159.5:p.T68N

Associated Papers

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Zarate YA et al.

Clinical Genetics, 2025

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

Chong JX et al.

Hgg Advances, 2023

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

Chong JX et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."