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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHKB

Variant:p.E678Splc

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PHKB

NM_000293.3:p.E678Splc

hg38:chr16:47660655 A>G

Associated Papers

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

39707443 (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."