Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.R267Q
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GSS

NM_000178.4:p.R267Q

Associated Papers

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).

Jury J et al.

Clinical Genetics, 2024

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

Wu X et al.

Frontiers in Pediatrics, 2023

Glutathione synthetase deficiency: a novel mutation with femur agenesis.

Guney Varal I et al.

Fetal and Pediatric Pathology, 2020

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

Sykut-Cegielska J et al.

Journal of Inherited Metabolic Disease, 2005

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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."