Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.L490fs
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GBE1

NM_000158.4:p.L490fs

Associated Papers

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Koch RL et al.

Jci Insight, 2024

38912588 (PubMed )
Supplement: jciinsight-9-177722-s250.pdf

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK et al.

Neuromuscular Disorders : Nmd, 2004

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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."