Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.Y52*
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PYGM

NM_005609.4:p.Y52*

Associated Papers

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Nogales-Gadea G et al.

Human Mutation, 2015

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Martín MA et al.

Annals of Human Genetics, 2004

Metabolic and drug-induced muscle disorders.

Scarlato G et al.

Current Opinion in Neurology, 2002

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.

Hadjigeorgiou GM et al.

Journal of the Neurological Sciences, 2002

[Neurological, dermatological and biological manifestations of porphyria variegata. A study of 3 families of Italian origin in Marseilles area].

Aquaron R et al.

Revue Neurologique, 1992

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].

Fernandez-Cadenas I et al.

Revista De Neurologia, 0

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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."