Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.E266K
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PKLR

NM_000298.6:p.E266K

Associated Papers

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Dongerdiye R et al.

Annals of Hematology, 2023

Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Hu B et al.

Frontiers in Oncology, 2021

34434896 (PubMed )
Supplement: DataSheet_5.xlsx › All.final.xls.sed

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Pissard S et al.

British Journal of Haematology, 2006

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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."