Associated Papers
Prenatal Diagnosis of Extracardiac Malformations Caused by an ACTC1 Variant Presented With Cystic Hygroma and Multiple Congenital Contractures.
Feng QQ et al.
Prenatal Diagnosis, 2026
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
Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.
Glyakina AV et al.
Biophysical Reviews, 2022
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