Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.L89P
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PGK2

NM_138733.5:p.L89P

Associated Papers

Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Valentini G et al.

Biomolecules, 2013

Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.

Pey AL et al.

Biochemistry, 2013

PGK deficiency.

Beutler E

British Journal of Haematology, 2007

A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships.

Valentin C et al.

Human Mutation, 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."