Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.K599_N600Splc
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PHKB

NM_000293.3:p.K599_N600Splc

Associated Papers

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Yu J et al.

Clinical Genetics, 2024

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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."