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Mr Rafael Graca

National Health Institute Doutor Ricardo Jorge, IP, Lisbon (Portugal)
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Biography
Postdoctoral researcher specialised in functional genomics of lipid disorders, with a focus on variant interpretation and clinical translation in familial hypercholesterolaemia (FH). Experienced in integrating molecular assays with genetic and clinical data to improve diagnosis and patient stratification. Actively involved in international collaborative projects and a curator in the ClinGen FH Variant Curation Expert Panel (FH VCEP). Strong interest in advancing precision medicine through functional and omics-based approaches. Contributing to bridging the gap between genetic diagnosis and clinical implementation in cardiovascular disease.
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Variant-specific drug responses in FH: an ex vivo pilot study
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Variant-specific drug responses in FH: an ex vivo pilot study

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