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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBE1

Variant:p.A276P

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GBE1

NM_000158.4:p.A276P

hg38:chr3:81642947 C>G

Associated Papers

Inherited Metabolic Disorders: From Bench to Bedside.

Fonseca T et al.

Biomedicines, 2024

38255278 (PubMed )

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

Wilke MVMB et al.

Biomedicines, 2023

36830903 (PubMed )

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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."