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Paper Details

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
Clin Genet
17
2010
BBS, BBS2, BBS2 gene, Bardet-Biedl syndrome, Hutterite, Hutterite BBS locus, RNA, SNP arrays, SNP blocks, c.472, ciliary dysfunction, ciliopathies, developmental disorder, patient, patients

Datasets

Release 1.2