apo c-ii lipoprotein lipase Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism Apolipoproteins in vascular biology and

Bjelanovi, M., Grabe, V., Vui, G., Martinovi, A., Lima, L

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For variants of uncertain significance (VUS) a Bayesian network integrating 13 in silico tools MutationTaster 2.0 training set n = 5,238 CADD 20 for deleterious variants reclassifies 56.5% of VUS: 17.8% as pathogenic 38.7% as likely pathogenic revising recurrence risks from 5 to 25% in mosaic mutation families (Gonsales et al., 2019

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Nevertheless, the determinants of pCS production in humans remain poorly characterized