Chora, Joana R.Lacocca, Michael A.Carrié, AlainLeigh, Sarah E.Tichý, LukášKurtz, C. LisaFreiberger, TomasSijbrands, Eric J.Hegele, Robert A.Knowles, Joshua W.Bourbon, Mafalda2019-07-102019-07-102019-05http://hdl.handle.net/10400.18/6428Background and Aims: the general ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are a great asset in determining variants’ pathogenicity, but need to be adapted to each specific gene and disease.engFamilial HypercholesterolemiaGuidelinesDoenças Cardio e Cérebro-vascularesconference object