Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V460M
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PKLR

NM_000298.6:p.V460M

Associated Papers

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

Bianchi P et al.

American Journal of Hematology, 2020

Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.

Haija MA et al.

Pediatric Blood & Cancer, 2014

Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.

van Wijk R et al.

British Journal of Haematology, 2007

Mutations in pyruvate kinase.

Beutler E et al.

Human Mutation, 1996

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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."