Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.G275R
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PKLR

NM_000298.6:p.G275R

Associated Papers

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Aly NH et al.

Blood Cells, Molecules & Diseases, 2023

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

28683746 (PubMed )
Supplement: 12943_2017_691_MOESM1_ESM.xlsx › Table_S5

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

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

Demina A et al.

Blood, 1998

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."