Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.R125H
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GSS

NM_000178.4:p.R125H

Associated Papers

Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.

Wu X et al.

Frontiers in Pediatrics, 2023

A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.

Soylu Ustkoyuncu P et al.

Journal of Pediatric Hematology/oncology, 2018

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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."