Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo, Marinus J. Blok, Phillip Whiley, Marta Santamarina, Sara Gutierrez-Enriquez, Atocha Romero, Pilar Garre, Alexandra Becker, Lindsay Denise Smith, Giovanna De Vecchi, Rita D. Brandao, Demis Tserpelis, Melissa Brown, Ana Blanco, Sandra Bonache, Mireia Menendez, Claude Houdayer, Claudia Foglia, James D. Fackenthal, Diana BaralleBarbara Wappenschmidt, Eduardo Diaz-Rubio, Trinidad Caldes, Logan Walker, Orland Diez, Ana Vega, Amanda B. Spurdle, Paolo Radice, Miguel De La Hoya*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology