Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Human Mutation

Volumn 39, Issue 11, 2018, Pages 1485-1493

  Grant, Andrew R ^a   Cushman, Brandon J ^a   Cavé, Hélène ^b   Dillon, Mitchell W ^c   Gelb, Bruce D ^c   Gripp, Karen W ^d   Lee, Jennifer A ^e   Mason Suares, Heather ^a   Rauen, Katherine A ^f   Tartaglia, Marco ^g   Vincent, Lisa M ^h   Zenker, Martin ⁱ  

^a LABORATORY FOR MOLECULAR MEDICINE   (United States)

^b UNIVERSITÉ PARIS DIDEROT   (France)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^e GREENWOOD GENETIC CENTER   (United States)

^f University of California at Davis School of Medicine   (United States)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h GENEDX   (United States)

ⁱ UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

Author keywords

ClinGen; gene curation; genetic; genomics; RASopathy

Indexed keywords

RAS PROTEIN;

CONGENITAL HEART MALFORMATION; COSTELLO SYNDROME; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETICS; HUMAN; MAPK SIGNALING; METABOLISM; MUTATION; NOONAN SYNDROME; PHYSIOLOGY;

COSTELLO SYNDROME; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; HEART DEFECTS, CONGENITAL; HUMANS; MAP KINASE SIGNALING SYSTEM; MUTATION; NOONAN SYNDROME; RAS PROTEINS;

EID: 85054687829     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23624     Document Type: Article

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