Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.P517insFs
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ALPK3

NM_020778.5:p.P517insFs

Associated Papers

[Genetic re-analysis of a Chinese pedigree affected with Hypertrophic cardiomyopathy due to a heterozygous truncating variant of ALPK3 gene and literature review].

Hong C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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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."