Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.E429fs
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PKLR

NM_000298.6:p.E429fs

Associated Papers

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.

Pereira J et al.

Annals of Hematology, 2016

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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."