Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.R273C
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GPI

NM_000175.5:p.R273C

Associated Papers

Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis.

Zhu D et al.

British Journal of Haematology, 2023

Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report.

Zu Y et al.

Bmc Pediatrics, 2022

Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.

See WQ et al.

Journal of Pediatric Hematology/oncology, 2020

QM-MM simulations on p53-DNA complex: a study of hot spot and rescue mutants.

Koulgi S et al.

Journal of Molecular Modeling, 2013

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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."