Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.D331E
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PKLR

NM_000298.6:p.D331E

Associated Papers

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Bianchi P et al.

American Journal of Hematology, 2020

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

Svidnicki MCCM et al.

Annals of Hematology, 2020

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Shefer Averbuch N et al.

European Journal of Haematology, 2018

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

Pissard S et al.

British Journal of Haematology, 2006

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."