Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.L728fs
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PHKB

NM_000293.3:p.L728fs

Associated Papers

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F et al.

Molecular Genetics & Genomic Medicine, 2019

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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."