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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013)
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Abstract
Integrative genomics viewer. Nature biotechnology, 2011/01/01, Volume 29, Issue 1, p.24-6, (2011)
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