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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPK1

Variant:p.Y254F

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ALPK1

NM_025144.4:p.Y254F

hg38:chr4:112427631 A>T

Associated Papers

Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Snelling T et al.

Open Biology, 2024

39626775 (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."