ClinVar database of global familial hypercholesterolemia-associated DNA variants

Human Mutation

Volumn 39, Issue 11, 2018, Pages 1631-1640

  Iacocca, Michael A ^a   Chora, Joana R ^b,c   Carrié, Alain ^d,e   Freiberger, Tomáš ^f,g   Leigh, Sarah E ^h   Defesche, Joep C ⁱ   Kurtz, C Lisa ^j   DiStefano, Marina T ^k   Santos, Raul D ^l   Humphries, Steve E ^m   Mata, Pedro ⁿ   Jannes, Cinthia E ^l   Hooper, Amanda J ^o   Wilemon, Katherine A ^p   Benlian, Pascale ^q   O'Connor, Robert ^r   Garcia, John ^s   Wand, Hannah ^t   Tichy, Lukáš ^u   Sijbrands, Eric J ^v   Hegele, Robert A ^a   Bourbon, Mafalda ^b,c   Knowles, Joshua W ^p,t   more..

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c UNIVERSITY OF LISBON   (Portugal)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f CENTRE FOR CARDIOVASCULAR SURGERY AND TRANSPLANTATION   (Czech Republic)

^g MASARYK UNIVERSITY   (Czech Republic)

^h GENOMICS ENGLAND   (United Kingdom)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

^j UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^k HARVARD MEDICAL SCHOOL   (United States)

^l UNIVERSITY OF SÃO PAULO   (Brazil)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ Medicina Interna   (Spain)

^o UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^p FH Foundation   (United States)

^q UNIV LILLE   (France)

^r Color Genomics ^*  (United States)

^s Invitae   (United States)

^t STANFORD UNIVERSITY   (United States)

^u UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^v ERASMUS MEDICAL CENTER   (Netherlands)

more..

Author keywords

Clinical Genome Resource; ClinVar; familial hypercholesterolemia; variant interpretation

Indexed keywords

DNA;

FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC DATABASE; GENETIC VARIATION; GENETICS; GENOMICS; HUMAN; HUMAN GENOME;

DATABASES, GENETIC; DNA; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II;

EID: 85054632930     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23634     Document Type: Article

References (13)

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