Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.Y329D
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GBE1

NM_000158.4:p.Y329D

Associated Papers

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.

Latif M et al.

Journal of Clinical Medicine, 2024

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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."