Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.G534V
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GBE1

NM_000158.4:p.G534V

Associated Papers

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Szymańska E et al.

Archives of Medical Science : Ams, 2018

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Froese DS et al.

Human Molecular Genetics, 2015

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Sagnelli A et al.

Neuromuscular Disorders : Nmd, 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."