Associated Papers
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
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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