Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R532Q
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PKLR

NM_000298.6:p.R532Q

Associated Papers

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

Gök V et al.

British Journal of Haematology, 2024

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Dongerdiye R et al.

Annals of Hematology, 2023

[Molecular study of red cell pyruvate kinase deficiency in 15 patients with chronic hemolytic anemia. Group of Erythropathology of Hematology and hemotherapy Association of Spain (HHAS)].

Zarza R et al.

Medicina Clinica, 1999

Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).

Zarza R et al.

British Journal of Haematology, 1998

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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."