Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R426Q
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PKLR

NM_000298.6:p.R426Q

Associated Papers

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök V et al.

British Journal of Haematology, 2024

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation.

Wu H et al.

Frontiers in Genetics, 2023

Mutations in pyruvate kinase.

Beutler E et al.

Human Mutation, 1996

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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."