Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.Q473delFs
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ALPK3

NM_020778.5:p.Q473delFs

Associated Papers

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

High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.

Ryu SW et al.

Frontiers in Cardiovascular Medicine, 2024

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S1
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