Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.R96*
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GPI

NM_000175.5:p.R96*

Associated Papers

Glucose-6-phosphate isomerase deficiency hemolysis.

Huang B et al.

Quantitative Imaging in Medicine and Surgery, 2023

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

Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.

Kedar PS et al.

Indian Journal of Pediatrics, 2019

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.

Manco L et al.

Blood Cells, Molecules & Diseases, 2016

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.

Charfeddine C et al.

The British Journal of Dermatology, 2003

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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."