Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.Q231*
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ALPK3

NM_020778.5:p.Q231*

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

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

Ryu SW et al.

Frontiers in Cardiovascular Medicine, 2024

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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."