Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.Q58*
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PKLR

NM_000298.6:p.Q58*

Associated Papers

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

Gök V et al.

British Journal of Haematology, 2024

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.

Mehrabi Sisakht J et al.

Archives of Iranian Medicine, 2022

Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis.

Caria CA et al.

Cells, 2022

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Viprakasit V et al.

Blood, 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."