Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.K599_N600Splc
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PHKB

NM_000293.3:p.K599_N600Splc

Associated Papers

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Screening newborns: current state and future challenges. Abstracts of the International Congress on Prevention of Congenital Diseases. Vienna, Austria. May 13-14, 2011.

Unknown Author

Journal of Inherited Metabolic Disease, 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."