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Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
NPJ Genomic Medicine|December 22, 2017
Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlationsSigurgeir Olafsson, Pernilla Stridh, Steffan Daniël Bos, et al.
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