Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.A495V
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PKLR

NM_000298.6:p.A495V

Associated Papers

How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.

Tama-Shekan S et al.

Hematology Reports, 2024

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Prevalence of pyruvate kinase deficiency: A systematic literature review.

Secrest MH et al.

European Journal of Haematology, 2020

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Bianchi P et al.

American Journal of Hematology, 2020

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

Kung C et al.

Blood, 2017

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

Demina A et al.

Blood, 1998

Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.

Pastore L et al.

Human Mutation, 1998

Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.

Percy MJ et al.

Blood Cells, Molecules & Diseases, 0

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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."