Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.L286Q
Back to variants list

GSS

NM_000178.4:p.L286Q

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."