Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.R422Q
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PGM1

NM_002633.3:p.R422Q

Associated Papers

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.

Stiers KM et al.

Journal of Inherited Metabolic Disease, 2020

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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."