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Journal: Int. J. Mol. Sci., 2018
Volume: 19
Number: 2218
2218
Article: 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
Authors: by Valentina Citro, Chiara Cimmaruta, Maria Monticelli, Guglielmo Riccio, Bruno Hay Mele, Maria Vittoria Cubellis and Giuseppina Andreotti
Link: https://www.mdpi.com/1422-0067/19/8/2218

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