Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A423_I424Splc
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PKLR

NM_000298.6:p.A423_I424Splc

Associated Papers

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy.

Kim M et al.

Bone Marrow Transplantation, 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."