Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.V395L
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PKLR

NM_000298.6:p.V395L

Associated Papers

A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.

Li H et al.

Fetal and Pediatric Pathology, 2014

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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."