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Phenotypic Spectrum of Mutations: A Clinical Case.

作者信息

Servatius Helge, Porro Alessandro, Pless Stephan A, Schaller André, Asatryan Babken, Tanner Hildegard, de Marchi Stefano F, Roten Laurent, Seiler Jens, Haeberlin Andreas, Baldinger Samuel H, Noti Fabian, Lam Anna, Fuhrer Juerg, Moroni Anna, Medeiros-Domingo Argelia

机构信息

From the Department of Cardiology (H.S., B.A., H.T., S.F.d.M., L.R., J.S., A.H., S.H.B., F.N., A.L., J.F., A.M.-D.) and Division of Human Genetics, Department of Pediatrics (A.S.), Inselspital, Bern University Hospital, University of Bern, Switzerland; Artificial Organ Center for Biomedical Engineering Research, University of Bern, Switzerland (A.H.); Department of Biosciences, CNR IBF-Milano, Università degli Studi di Milano, Italy (A.P., A.M.); and Department of Drug Design and Pharmacology, Center for Biopharmaceuticals, University of Copenhagen, Denmark (S.A.P.).

出版信息

Circ Genom Precis Med. 2018 Feb;11(2):e002033. doi: 10.1161/CIRCGEN.117.002033.

Abstract
摘要

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