Specification of ACMG AMP Guidelines for Variant Interpretation in Familial Hypercholesterolemia

Background and Aims: the general ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are a great asset in determining variants’ pathogenicity, but need to be adapted to each specific gene and disease.

Detalhes bibliográficos
Autor principal:	Chora, Joana R. (author)
Outros Autores:	Lacocca, Michael A. (author), Carrié, Alain (author), Leigh, Sarah E. (author), Tichý, Lukáš (author), Kurtz, C. Lisa (author), Freiberger, Tomas (author), Sijbrands, Eric J. (author), Hegele, Robert A. (author), Knowles, Joshua W. (author), Bourbon, Mafalda (author)
Formato:	conferenceObject
Idioma:	eng
Publicado em:	2019
Assuntos:	Familial Hypercholesterolemia Guidelines Doenças Cardio e Cérebro-vasculares
Texto completo:	http://hdl.handle.net/10400.18/6428
País:	Portugal
Oai:	oai:repositorio.insa.pt:10400.18/6428

Descrição
Resumo:	Background and Aims: the general ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are a great asset in determining variants’ pathogenicity, but need to be adapted to each specific gene and disease.