Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.D539N
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GPI

NM_000175.5:p.D539N

Associated Papers

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.

Xi BX et al.

Current Medical Science, 2024

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

A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency.

Burger NCM et al.

Journal of Pediatric Hematology/oncology, 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

Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report.

Adama van Scheltema PN et al.

Clinical Case Reports, 2015

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.

Repiso A et al.

Human Mutation, 2006

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

Kugler W et al.

Human Genetics, 1998

Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency.

Kanno H et al.

Blood Cells, Molecules & Diseases, 1998

Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.

Kanno H et al.

Blood, 1996

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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."