Varaico: Literature-Extracted Genetic Variants

Gene:PFKL
Variant:p.G57V
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PFKL

NM_002626.6:p.G57V

Associated Papers

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Musumeci O et al.

Neuromuscular Disorders : Nmd, 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."