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Lindstrand A, Frangakis S, Carvalho CB, Richardson E, McFadden K, Willer J, Pehlivan D, Liu P, Pediaditakis I, Sabo A, Lewis R, Banin E, Lupski J, Davis E, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. The American Journal of Human Genetics. 2016 Aug;99(2):318–36. doi: 10.1016/j.ajhg.2015.04.023. |