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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.

Human molecular genetics - 1 Jun 2016

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