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 classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López-Perolio, Ana Vega, Logan C. Walker, Yvette van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen, Philip Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas V.O. Hansen, Raquel Behar, Investigators KConFaB Investigators, Diether NiederacherNorbert Arnold, Bernd Dworniczak, Doris Steinemann, Ulrike Faust, Wendy Rubinstein, Peter J. Hulick, Claude Houdayer, Sandrine M. Caputo, Laurent Castera, Tina Pesaran, Elizabeth Chao, Carole Brewer, Melissa C. Southey, Christi J. van Asperen, Christian F. Singer, Jan Sullivan, Nicola Poplawski, Phuong Mai, Julian Peto, Nichola Johnson, Barbara Burwinkel, Harald Surowy, Stig E. Bojesen, Henrik Flyger, Annika Lindblom, Sara Margolin, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Laura Galastri, Janet E. Olson, Emily Hallberg, Graham G. Giles, Roger L. Milne, Irene L. Andrulis, Gord Glendon, Per Hall, Kamila Czene, Fiona Blows, Mitul Shah, Qin Wang, Joe Dennis, Kyriaki Michailidou, Lesley McGuffog, Manjeet K. Bolla, Antonis C. Antoniou, Douglas F. Easton, Fergus J. Couch, Sean Tavtigian, Maaike P. Vreeswijk, Michael Parsons, Huong D. Meeks, Alexandra Martins, David E. Goldgar, Amanda B. Spurdle

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