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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHKG2

Variant:p.S253G

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PHKG2

NM_000294.3:p.S253G

hg38:chr16:30756476 A>G

Associated Papers

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.

Shao Y et al.

Bmc Pediatrics, 2022

35549678 (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."