Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (Part 2): How to classify LDLR variants

• Author(s): Chora, J.R.
• Date: 2020
• Persistent ID: http://hdl.handle.net/10400.18/7697
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Familial Hypercholesterolemia; Classification; Genetic Variants; FH LDLR; Doenças Cardio e Cérebro-vasculares
• Document Type: Lecture
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

Lecture about FH LDLR variants - classification of genetic variants for clinical use.