Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
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Kirby A, et al. Among authors: guttman m.
Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.
Nat Genet. 2013.
PMID: 23396133
Free PMC article.