Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

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Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome Empty Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Post  Jon Moulton on Fri Apr 18, 2014 10:28 am

Lindstrand A, Davis EE, Carvalho CMB, Pehlivan D, Willer JR, Tsai I-C, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N. Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome. Am J Hum Genet. 2014;[Epub ahead ofprint] doi:10.1016/j.ajhg.2014.03.017
Jon Moulton
Jon Moulton

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