Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.L184F
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PFKM

NM_001166686.2:p.L184F

Associated Papers

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."