Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R322Splc
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PKLR

NM_000298.6:p.R322Splc

Associated Papers

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.

Jaouani M et al.

International Journal of Laboratory Hematology, 2017

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Pissard S et al.

British Journal of Haematology, 2006

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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."