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Authors: Lee R, Frick M, Joseph G, Guerra C, Stewart S, Kaplan C, Dixit N, Tsoh JY, Flores S, Pasick RJ
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Orphanet journal of rare diseases
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Authors: Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, University of Washington Center for Mendelian Genomics, Deheragoda M, Bull LN, Thompson RJ
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