Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.Q675fs
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ALPK3

NM_020778.5:p.Q675fs

Associated Papers

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

Ribeiro M et al.

Human Cell, 2024

Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).

Cheawsamoot C et al.

Stem Cell Research, 2023

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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."