Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.R104Q
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GPI

NM_000175.5:p.R104Q

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

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."