Publicação
Criterios de Estratificación de Variantes Según ACMG
| dc.contributor.author | Medeiros, Ana | |
| dc.date.accessioned | 2026-03-09T12:45:37Z | |
| dc.date.available | 2026-03-09T12:45:37Z | |
| dc.date.issued | 2025-03-07 | |
| dc.description.abstract | Lecture on Variant Stratification Criteria Developed by American College of Medical Genetics and Genomics (ACMG), presented in the course “Primary Dyslipidemias: From Diagnosis to Treatment,” within the framework of the EPHF (Portuguese Familial Hypercholesterolemia Study), conducted by the Cardiovascular Research Group – Department of Health Promotion and Prevention of Non-Communicable Diseases. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11230 | |
| dc.language.iso | eng | |
| dc.peerreviewed | n/a | |
| dc.rights.uri | N/A | |
| dc.subject | Next-Generation Sequencing (NGS) | |
| dc.subject | Genetic Testing | |
| dc.subject | Variant Classification | |
| dc.subject | Gene Panel | |
| dc.subject | Precision Medicine | |
| dc.subject | Doenças Cardio e Cérebro-vasculares | |
| dc.title | Criterios de Estratificación de Variantes Según ACMG | 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_b1a7d7d4d402bcce |
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