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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPK3

Variant:p.V810_G820delFs

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ALPK3

NM_020778.5:p.V810_G820delFs

hg38:chr15:84857165 TGTGGAGCAGGTGGGAGGAGAGAGATGCCGAG>T

Associated Papers

Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.

Agarwal R et al.

Circulation, 2022

36321451 (PubMed )

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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."