Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.G231Splc
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GBE1

NM_000158.4:p.G231Splc

Associated Papers

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Lefèvre CR et al.

Journal of Inherited Metabolic Disease, 2024

Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

Johal J et al.

Hospital Practice (1995), 2022

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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."