Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.M1I
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GYG1

NM_004130.4:p.M1I

Associated Papers

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R et al.

Neurology. Genetics, 2017

GYG1 gene mutations in a family with polyglucosan body myopathy.

Fanin M et al.

Neurology. Genetics, 2015

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E et al.

Annals of Neurology, 2014

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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."