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The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
 
 

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Journal: Int. J. Mol. Sci., 2019
Volume: 20
Number: 4219

Article: Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management
Authors: by Katharina Wesseler, Florian Kraft and Thomas Eggermann
Link: https://www.mdpi.com/1422-0067/20/17/4219

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