Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.G341D
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PKLR

NM_000298.6:p.G341D

Associated Papers

Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency.

Dulmovits BM et al.

Neonatology, 2023

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

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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."