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Publicação
Criterios de Estratificación de Variantes Según ACMG
| Nome: | Descrição: | Tamanho: | Formato: | |
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| 3.04 MB | Adobe PDF |
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Resumo(s)
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.
Descrição
Palavras-chave
Next-Generation Sequencing (NGS) Genetic Testing Variant Classification Gene Panel Precision Medicine Doenças Cardio e Cérebro-vasculares