Work

Development of gene-specific ACMG/AMP guidelines for the interpretation of APOB and PCSK9 variants in familial hypercholesterolemia

Year: 2025

Type: article

Source: Atherosclerosis

DOI: 10.1016/j.atherosclerosis.2025.119569

Authors: Joana Chora, Amanda Hooper, Christina Gutierrez Ford, Iftikhar Kullo, Mafalda Bourbon

Institutions: University of Lisbon, National Institute of Health Dr. Ricardo Jorge, The University of Western Australia, Royal Perth Hospital, Fiona Stanley Hospital, University of North Carolina at Chapel Hill, Mayo Clinic

Language: English

Topic: Lipoproteins and Cardiovascular Health

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4413269344

FWCI: 0.943

Cites:

Cited by: 1

Related to: 10