Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.G158R
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PGK1

NM_000291.4:p.G158R

Associated Papers

Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy.

Gutierrez E et al.

Pediatric Hematology and Oncology, 2023

Peripheral blood smear in a patient with phosphoglycerate kinase 1 mutation.

Lyapichev KA et al.

Blood, 2022

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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."