Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.Q1064*
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PHKA2

NM_000292.3:p.Q1064*

Associated Papers

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 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."