Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.Q343R
Back to variants list

GPI

NM_000175.5:p.Q343R

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

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

Effects of inherited mutations on catalytic activity and structural stability of human glucose-6-phosphate isomerase expressed in Escherichia coli.

Lin HY et al.

Biochimica Et Biophysica Acta, 2009

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."