Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.P352insFs
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ALPK3

NM_020778.5:p.P352insFs

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

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.

Ader F et al.

Clinical Genetics, 2024

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