Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.R184W
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PFKM

NM_000289.6:p.R184W

Associated Papers

Gene therapy for glycogen storage diseases.

Koeberl DD et al.

Journal of Inherited Metabolic Disease, 2024

Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.

Inal Gultekin G et al.

Molecular and Cellular Probes, 2012

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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."