Varaico: Literature-Extracted Genetic Variants

Gene:PGK2
Variant:p.I371K
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PGK2

NM_138733.5:p.I371K

Associated Papers

Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Valentini G et al.

Biomolecules, 2013

A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.

Fermo E et al.

Molecular Genetics and Metabolism, 2012

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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."