Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.D46fs
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PHKA2

NM_000292.3:p.D46fs

Associated Papers

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.

Choi R et al.

Bmc Medical Genetics, 2016

A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.

Park KJ et al.

Annals of Clinical and Laboratory Science, 2011

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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."