Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.Y17Y
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GPI

NM_000175.5:p.Y17Y

Associated Papers

Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.

Vives-Corrons JL et al.

Human Genetics, 1978

Haemolytic anaemia associated with glucosephosphate isomerase (GPI) deficiency in a Black South African child.

Cayanis E et al.

British Journal of Haematology, 1977

Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: clinical and familial studies.

Vives-Corrons JL et al.

Humangenetik, 1975

[Haemolytic anaemia due to congenital deffect in phosphohexoseisomerase. Report of a new variant (PHI-Barcelona) with stomatocytosis and increased osmotic fragility (author's transl)].

Vives-Corrons JL et al.

Sangre, 1975

[Congenital deficiency in glucose-6-phosphate dehydrogenase. Slow variant found in a Spanish family. Relation with the variant Gd(minus) "Seattle" (author's transl)].

Vives Corrons JL et al.

Sangre, 1974

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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."