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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
2021
149 citations
Journal Article
bronze Open Access
Field-Weighted Citation Impact:
21.12
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification | Researchclopedia
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Color (United States)
Maggie Williams
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North Bristol NHS Trust
Steve E. Humphries
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University College London
Amanda J. Hooper
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Fiona Stanley Hospital
Mark Trinder
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University of British Columbia
Liam R. Brunham
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University of British Columbia
Alexandre C. Pereira
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Universidade de São Paulo
Cinthia Elim Jannes
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Universidade de São Paulo
Margaret Chen
Jessica Chonis
Jian Wang
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Western University
Serra Kim
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Color (United States)
Tami Johnston
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Ambry Genetics (United States)
Přemysl Souček
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Centrum kardiovaskulární a transplantační chirurgie
Michal Kramárek
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Masaryk University
S. E. A. Leigh
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Genomics England
Alain Carrié
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Sorbonne Université
Eric J.G. Sijbrands
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Amsterdam UMC Location University of Amsterdam
Robert A. Hegele
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Western University
Tomáš Freiberger
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Masaryk University
Joshua W. Knowles
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Stanford University
Mafalda Bourbon
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National Institute of Health Dr. Ricardo Jorge