Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.Q601_A602Splc
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GBE1

NM_000158.4:p.Q601_A602Splc

Associated Papers

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.

Wilke MVMB et al.

Biomedicines, 2023

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS et al.

Journal of Inherited Metabolic Disease, 2021

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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."