Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.L490fs
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GBE1

NM_000158.4:p.L490fs

Associated Papers

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Magoulas PL et al.

Human Pathology, 2012

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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."