Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.G511E
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PKLR

NM_000298.6:p.G511E

Associated Papers

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Svidnicki MCCM et al.

Annals of Hematology, 2020

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

Kung C et al.

Blood, 2017

[Identification of 5 variants of the hemoglobin beta chain using DNA analysis (amplification, sequencing and restriction enzymes)].

Martí E et al.

Sangre, 1997

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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."