Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.R340C
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ALPK3

NM_020778.5:p.R340C

Associated Papers

A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.

Li T et al.

Frontiers in Cardiovascular Medicine, 2023

The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia.

Dai J et al.

Frontiers in Medicine, 2022

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.

Jorholt J et al.

Genes, 2020

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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."