Associated Papers
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J et al.
Human Genetics, 2010
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Stoetzel C et al.
Journal of Human Genetics, 2006
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