title: When a "disease-causing mutation" is not a pathogenic variant.
authors.affiliation: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P. R. China;
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
mesh_terms: D004194:Disease / Q000209:etiology / Q000235:genetics; D059472:Exome / Q000235:genetics; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic