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Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

Crossref DOI link: https://doi.org/10.1038/gim.2017.151

Published Print: 2018-06

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Chora, Joana Rita

Medeiros, Ana Margarida

Alves, Ana Catarina

Bourbon, Mafalda
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Text and Data Mining valid from 2018-06-01

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Article Title: Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/gim.2017.151

Content Type: article

Copyright: © 2018, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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