Publicação
Estudios de Análisis Funcional de Variantes de Significado Incierto
| dc.contributor.author | Alves, Ana Catarina | |
| dc.date.accessioned | 2026-03-09T11:59:10Z | |
| dc.date.available | 2026-03-09T11:59:10Z | |
| dc.date.issued | 2025-03-06 | |
| dc.description | ||
| dc.description.abstract | Lecture on functional studies of Variants of Uncertain Significance (VUS), presented in the course “Primary Dyslipidemias: From Diagnosis to Treatment”, within the framework of the EPHF (Portuguese Familial Hypercholesterolemia Study), developed by the Cardiovascular Research Group – Department of Health Promotion and Prevention of Non-Communicable Diseases. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11222 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | Variant Classification | |
| dc.subject | Functional Assays | |
| dc.subject | LDLR | |
| dc.subject | APOB | |
| dc.subject | PCSK9 | |
| dc.subject | LDLR Variants | |
| dc.title | Estudios de Análisis Funcional de Variantes de Significado Incierto | spa |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.citation.title | Lecture in the course Primary Dyslipidemias: from Diagnosis to Treatment, Faculty of Pharmacy, University of Concepción, Chile, 6,7 March 2025 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |