Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R40Q
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PKLR

NM_000298.6:p.R40Q

Associated Papers

Primary sclerosing cholangitis with PLKR and UGT1A1 mutation manifested as recurrent bile duct stones: A case report.

Zhou Y et al.

Medicine, 2025

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

[Identification and characterization of PKLR gene mutation in two patients with erythrocyte pyruvate kinase deficiency].

Huang ZD et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2017

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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."