Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.S653*
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ALPK3

NM_020778.5:p.S653*

Associated Papers

Novel compound heterozygous ALPK3 mutations (c.4234C>T and c.3491G>A), causing hypertrophic cardiomyopathy treated with the liwen procedure: case report.

Liu WJ et al.

Frontiers in Cardiovascular Medicine, 2025

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

Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants.

Chumakova OS et al.

Cardiology Research, 2022

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