Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R518S
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PKLR

NM_000298.6:p.R518S

Associated Papers

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.

Fañanas-Baquero S et al.

Molecular Therapy. Methods & Clinical Development, 2021

34485608 (PubMed )
Supplement: mmc1.pdf
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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."