Associated Papers
Whole-exome sequencing identifies novel truncating ALPK3 variants in a compound heterozygous state associated with pediatric hypertrophic cardiomyopathy and phenotypic heterogeneity.
Wang Y et al.
Gene, 2025
A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.
Li T et al.
Frontiers in Cardiovascular Medicine, 2023
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Jorholt J et al.
Genes, 2020
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
Jaouadi H et al.
Journal of Human Genetics, 2018
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
Çağlayan AO et al.
Cold Spring Harbor Molecular Case Studies, 2017
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