Varaico: Literature-Extracted Genetic Variants

Gene:PHKG2
Variant:p.E186Splc
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PHKG2

NM_000294.3:p.E186Splc

Associated Papers

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

Sun C et al.

Orphanet Journal of Rare Diseases, 2025

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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."