Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.D219A
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GSS

NM_000178.4:p.D219A

Associated Papers

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

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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."