Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.W1563*
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ALPK3

NM_020778.5:p.W1563*

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.

Fetisova S et al.

Pediatric Research, 2025

40102575 (PubMed )
Supplement: 41390_2025_3989_MOESM2_ESM.xlsx › ____1

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Chumakova OS et al.

Genes, 2023

38002985 (PubMed )
Supplement: genes-14-02042-s001.zip › genes-2645868-supplementary.pdf

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

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

Lopes LR et al.

European Heart Journal, 2021

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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."