Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.G536V
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PKLR

NM_000298.6:p.G536V

Associated Papers

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency.

Kim M et al.

Frontiers in Pediatrics, 2022

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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."