Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.A337T
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GPI

NM_000175.5:p.A337T

Associated Papers

First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia.

Alotaibi W et al.

Cureus, 2025

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

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

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).

He S et al.

Bmc Medical Genomics, 2022

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

Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.

Kedar PS et al.

Journal of Clinical Pathology, 2019

Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.

Fermo E et al.

Frontiers in Physiology, 2019

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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."