Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Published:
Recommended citation: C. Houdayer, V. Caux-Moncoutier, S. Krieger, M. Barrois, F. Bonnet, V. Bourdon, … D. Stoppa-Lyonnet. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum. Mutat., 33:1228–1238, 2012. https://doi.org/10.1002/humu.22101