Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classi...

Por de la Hoya, Miguel, Soukarieh, Omar, López-Perolio, Irene, Vega, Ana, Walker, Logan C., van Ierland, Yvette, Baralle, Diana, Santamariña, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V. O., Behar, Raquel, Investigators, KConFaB, Niederacher, Diether, Arnold, Norbert, Dworniczak, Bernd, Steinemann, Doris, Faust, Ulrike, Rubinstein, Wendy, Hulick, Peter J., Houdayer, Claude, Caputo, Sandrine M., Castera, Laurent, Pesaran, Tina, Chao, Elizabeth, Brewer, Carole, Southey, Melissa C., van Asperen, Christi J., Singer, Christian F., Sullivan, Jan, Poplawski, Nicola, Mai, Phuong, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald, Bojesen, Stig E., Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo, Galastri, Laura, Olson, Janet E., Hallberg, Emily, Giles, Graham G., Milne, Roger L., Andrulis, Irene L., Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, McGuffog, Lesley, Bolla, Manjeet K., Antoniou, Antonis C., Easton, Douglas F., Couch, Fergus J., Tavtigian, Sean, Vreeswijk, Maaike P., Parsons, Michael, Meeks, Huong D., Martins, Alexandra, Goldgar, David E., Spurdle, Amanda B.
Publicado no Hum Mol Genet (2016)