Associated Papers
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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.
Citro V et al.
International Journal of Molecular Sciences, 2018
30061496 (PubMed )
Supplement: ijms-19-02218-s001.zip › supplementary_file_3.xlsx › Sheet1
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