Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.T5I
Back to variants list

GPI

NM_000175.5:p.T5I

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 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

Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.

Warang P et al.

International Journal of Hematology, 2012

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

Kanno H et al.

Blood Cells, Molecules & Diseases, 1998

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."