Analysis of publicly available LDLR, APOB, and PCSK9...

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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

Chora, Joana Rita, Medeiros, Ana Margarida, Alves, Ana Catarina, Bourbon, Mafalda
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Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/gim.2017.151
Date:
October, 2017
File:
PDF, 459 KB
english, 2017
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