Varaico: Literature-Extracted Genetic Variants

Gene:GYG1
Variant:p.D56H
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GYG1

NM_004130.4:p.D56H

Associated Papers

Update on polyglucosan storage diseases.

Cenacchi G et al.

Virchows Archiv : an International Journal of Pathology, 2019

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

Ben Yaou R et al.

Neurology. Genetics, 2017

Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.

Krag TO et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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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."