Varaico: Literature-Extracted Genetic Variants

Gene:PMM1
Variant:p.D65Y
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PMM1

NM_002676.3:p.D65Y

Associated Papers

Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.

Thirumal Kumar D et al.

Journal of Biomolecular Structure & Dynamics, 2021

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI et al.

Journal of Inherited Metabolic Disease, 2011

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

Pirard M et al.

Febs Letters, 1999

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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."