Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.F538V
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GBE1

NM_000158.4:p.F538V

Associated Papers

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China.

Chen Y et al.

Genes & Diseases, 2024

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

Wilke MVMB et al.

Biomedicines, 2023

Type IV Glycogen Storage Disease Associated With Hemophagocytic Lymphohistiocytosis: A Case Report.

Wei A et al.

Journal of Pediatric Hematology/oncology, 2020

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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."