Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.T369P
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PGK1

NM_000291.4:p.T369P

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

A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.

Baba K et al.

Internal Medicine (tokyo, Japan), 2022

Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit).

Zaidi AU et al.

Pediatric Hematology and Oncology, 2019

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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."