Rare disorders have many faces: in silico characterization of rare disorder spectrum

被引：0
|
作者：
Simona D. Frederiksen
Vladimir Avramović
Tatiana Maroilley
Anna Lehman
Laura Arbour
Maja Tarailo-Graovac
机构：
[1] University of Calgary,Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine
[2] University of Calgary,Alberta Children’s Hospital Research Institute
[3] University of British Columbia,Department of Medical Genetics
来源：
Orphanet Journal of Rare Diseases | / 17卷
关键词：
Borderline-common; Diagnostics; Pipelines; Developmental defect; Neurological; Causative genes; Phenotypes; Pathway analysis; Orphanet;
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