Publicação
Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (part I)
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2026-03-09T12:39:40Z | |
| dc.date.available | 2026-03-09T12:39:40Z | |
| dc.date.issued | 2025-09-12 | |
| dc.description.abstract | Lecture on the Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (part I), presented within the framework of Genetics and Genomics in Clinical Practice: Advanced Training. This advanced course is aimed at healthcare professionals seeking to understand, interpret, and apply genomic information in clinical practice in a critical, ethical, and effective manner, particularly physicians and professionals with a background in life sciences. | por |
| dc.description.sponsorship | Caixa Research - Fundacíon "la Caixa" and PerMed FH. | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11229 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | Familial Hypercholesterolemia | |
| dc.subject | Variant Classification | |
| dc.subject | Genetic Diagnosis | |
| dc.title | Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (part I) | eng |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.citation.title | 6th ed. Post-graduate course Genetics and Genomics for Clinicians, NOVA Medical School, Lisboa, 12 setembro 2025 | |
| oaire.version | http://purl.org/coar/version/c_b1a7d7d4d402bcce |
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