Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.Q505E
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PKLR

NM_000298.6:p.Q505E

Associated Papers

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

Bianchi P et al.

American Journal of Hematology, 2020

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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."