Specification of ACMG AMP Guidelines for Variant Interpretation in Familial Hypercholesterolemia

http://hdl.handle.net/10400.18/6428

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Authors

Chora, Joana R.

Lacocca, Michael A.

Leigh, Sarah E.

Tichý, Lukáš

Freiberger, Tomas

Sijbrands, Eric J.

Hegele, Robert A.

Knowles, Joshua W.

Abstract(s)

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.

Keywords

Familial Hypercholesterolemia Guidelines Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/6428

Collections

DPSPDNT - Posters/abstracts em congressos internacionais