Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.V204L
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GBE1

NM_000158.4:p.V204L

Associated Papers

Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.

Ying S et al.

Frontiers in Pediatrics, 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."