Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R504L
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PKLR

NM_000298.6:p.R504L

Associated Papers

Mining for allosteric information: natural mutations and positional sequence conservation in pyruvate kinase.

Pendergrass DC et al.

Iubmb Life, 2006

Red cell pyruvate kinase deficiency: molecular and clinical aspects.

Zanella A et al.

British Journal of Haematology, 2005

Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.

Valentini G et al.

The Journal of Biological Chemistry, 2002

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

Demina A et al.

Blood, 1998

Novel mutations associated with pyruvate kinase deficiency in Brazil.

Svidnicki MCCM et al.

Hematology, Transfusion and Cell Therapy, 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."