Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.I314T
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PKLR

NM_000298.6:p.I314T

Associated Papers

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency.

Pang Y et al.

Frontiers in Immunology, 2024

Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency.

Xie F et al.

Molecular Genetics & Genomic Medicine, 2023

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

Novel PLKR mutations in four families with pyruvate kinase deficiency.

Qin L et al.

International Journal of Laboratory Hematology, 2020

Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy.

Liu PP et al.

Chinese Medical Journal, 2019

A novel PKLR gene mutation identified using advanced molecular techniques.

He Y et al.

Pediatric Transplantation, 2018

[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

[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].

Wu M et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

[Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation].

Qu Y et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2014

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."