Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Jury J et al.
Clinical Genetics, 2024
Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations.
Wang B et al.
Briefings in Bioinformatics, 2023
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X et al.
Frontiers in Pediatrics, 2023
Genetic Mutations in the S-loop of Human Glutathione Synthetase: Links Between Substrate Binding, Active Site Structure and Allostery.
Ingle BL et al.
Computational and Structural Biotechnology Journal, 2019
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P et al.
Journal of Pediatric Hematology/oncology, 2018
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Njålsson R et al.
Human Genetics, 2005
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Njålsson R et al.
The Biochemical Journal, 2004
Long-term clinical outcome in patients with glutathione synthetase deficiency.
Ristoff E et al.
The Journal of Pediatrics, 2001
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL et al.
British Journal of Haematology, 2001
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Dahl N et al.
Human Molecular Genetics, 1997
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Shi ZZ et al.
Nature Genetics, 1996
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