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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

by 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
Published in Human molecular genetics (01.06.2016)

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