FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity, and is a familial breast cancer risk factor.
Peterlongo et al. Hum Mol Genet. 2015 Jun 30. pii: ddv251.
In this paper, we use information theory to demonstrate a new mechanism for disease mutations. It turns out that this a fairly common type of mutation in our unpublished studies of other data sources.