Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A295V
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PKLR

NM_000298.6:p.A295V

Associated Papers

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

Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.

Warang P et al.

Blood Cells, Molecules & Diseases, 2013

Genetic diversity in human erythrocyte pyruvate kinase.

Berghout J et al.

Genes and Immunity, 2012

Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.

Kedar P et al.

Clinical Genetics, 2009

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

Demina A et al.

Blood, 1998

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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."