Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy
Sophie Hespe, Emma S. Singer, Chloe M. Reuter, Brittney A. Murray, Elizabeth Jordan, Jessica L. Chowns, Stacey A. Peters, Megan Mayers, Belinda R. Gray, Ray E. Hershberger, ANJALI TIKU OWENS, Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens, , Jodie Ingles
The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.
Circulation Genomic and Precision Medicine · Apr 21, 2025Peer-reviewedGenetic & Genomic Medicine