Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.Q278_N279Splc
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GSS

NM_000178.4:p.Q278_N279Splc

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

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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."