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Clinical Characteristics of the N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.

作者信息

Reuter Chloe, Platt Julia

机构信息

From the Department of Cardiology, Stanford Center for Inherited Cardiovascular Disease, Stanford Health Care, CA (C.R., J.P.); Stanford Center for Undiagnosed Diseases, CA (C.R.); and Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (J.P.).

出版信息

Circ Cardiovasc Genet. 2017 Oct;10(5). doi: 10.1161/CIRCGENETICS.117.001918.

Abstract
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