Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.L272V
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PKLR

NM_000298.6:p.L272V

Associated Papers

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.

Norris EJ et al.

Gynecologic Oncology Reports, 2018

29892687 (PubMed )
Supplement: mmc1.pdf

Modulation of Malaria Phenotypes by Pyruvate Kinase (PKLR) Variants in a Thai Population.

van Bruggen R et al.

Plos One, 2015

Exploring putative molecular mechanisms of human pyruvate kinase enzyme deficiency and its role in resistance against Plasmodium falciparum malaria.

Qidwai T et al.

Interdisciplinary Sciences, Computational Life Sciences, 2014

Genetic diversity in human erythrocyte pyruvate kinase.

Berghout J et al.

Genes and Immunity, 2012

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

van Wijk R et al.

Human Mutation, 2009

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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."