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Paper Details

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Nat Genet
178
2013
MCKD1, MUC1, MUC1 gene, VNTR, chromosome 1, coding variable-number tandem repeat (VNTR) sequence, cytosine, exomes, genetic lesions, medullary cystic kidney disease type 1, mendelian, mendelian disorders, mucin 1, repeat unit, simple mendelian disorder, whole genomes
Author NameAffiliation
Andrew KirbyBroad Institute of Harvard and MIT
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Release 1.2