Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.D543A
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PFKM

NM_000289.6:p.D543A

Associated Papers

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Filosto M et al.

Frontiers in Neurology, 2019

First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.

Vives-Corrons JL et al.

Frontiers in Physiology, 2013

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

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."