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
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
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
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