Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.
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