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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Vibratory Urticaria Associated with a Missense Variant in ADGRE2

Steven E Boyden1, Avanti Desai, Glenn Cruse

  • 1From the Inflammatory Disease Section, National Human Genome Research Institute (S.E.B., C.L.S., D.L.K.), Mast Cell Biology Section, National Institute of Allergy and Infectious Diseases, (A.D., G.C., H.C.B., L.M.S., A.R.E., A.O., D.D.M., H.D.K.), Laboratory of Pathology, National Cancer Institute (C.-C.R.L.), and National Institutes of Health (NIH) Intramural Sequencing Center, National Human Genome Research Institute (J.C.M.), NIH, Bethesda, and Clinical Research Directorate-Clinical Monitoring Research Program, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick (M.L.Y.) - both in Maryland; Veterinary Pathology Section, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, NIH, Hamilton, MT (R.D.L.); the Department of Genetics, Yale University School of Medicine, New Haven, CT (A.J.P., K.K.K.); Medical Genetics Unit, Saint Joseph University, Beirut (E.C.) and Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Fanar (M.M.-H.) - both in Lebanon; and Institut Jérôme Lejeune, Paris (A.M.).

The New England Journal of Medicine
|February 4, 2016
PubMed
Abstract

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