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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHKA1

Variant:p.Y663_L664Fs

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PHKA1

NM_002637.4:p.Y663_L664Fs

hg38:chrX:72620872 AA>CAACTT

Associated Papers

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.

Wang X et al.

Genome Medicine, 2025

40355959 (PubMed )

Supplement: 13073_2025_1483_MOESM1_ESM.pdf

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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."