Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R498H
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PKLR

NM_000298.6:p.R498H

Associated Papers

How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.

Tama-Shekan S et al.

Hematology Reports, 2024

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis.

Wang Y et al.

Heliyon, 2024

Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.

Mojzikova R et al.

British Journal of Haematology, 2014

Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.

Percy MJ et al.

Blood Cells, Molecules & Diseases, 0

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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."