Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.V1377Splc
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ALPK3

NM_020778.5:p.V1377Splc

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."