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.

Bibliographic Details
Main Author: Chora, Joana R. (author)
Other Authors: 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)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Familial Hypercholesterolemia
Guidelines
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/6428
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6428

Internet

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

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