Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.Y128C
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GSS

NM_000178.4:p.Y128C

Associated Papers

Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report.

Nemoto H et al.

Pediatrics and Neonatology, 2025

Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma.

Trang PTH et al.

Current Issues in Molecular Biology, 2025

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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."