作者单位：Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, United States[1]Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, United States[2]NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD[3]Department of Physiology and Biophysics, Weill Medical College, Cornell University, New York, NY[4]
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