Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.R347C
Back to variants list

GPI

NM_000175.5:p.R347C

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

Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis.

Gruda Sussman R et al.

Journal of Pediatric Hematology/oncology, 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

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

Fermo E et al.

Frontiers in Physiology, 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

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

Kugler W et al.

Human Genetics, 1998

[Deficit of glucose phosphate isomerase in erythrocytes of a Polish girl with inherited hemolytic anemia].

Jabłońska-Skwiecińska E et al.

Polski Tygodnik Lekarski (warsaw, Poland : 1960), 0

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."