Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.W686C
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PFKM

NM_000289.6:p.W686C

Associated Papers

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

Musumeci O et al.

Neuromuscular Disorders : Nmd, 2012

[Type VII glycogen storage disease].

Nakajima H et al.

Ryoikibetsu Shokogun Shirizu, 1998

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.

Hamaguchi T et al.

Human Mutation, 1996

Phosphofructokinase deficiency: recent advances in molecular biology.

Nakajima H et al.

Muscle & Nerve. Supplement, 1995

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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."