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
scientific article published on 23 March 2016
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author: Barbara Burwinkel, Jenny Chang-Claude, Kamila Czene, Michael Parsons, Logan Walker, Sandrine Caputo, Diana Baralle, Kyriaki Michailidou, Paolo Radice, Melissa C. Southey, Harald Surowy, Miguel de la Hoya, Julian Peto, Lesley McGuffog, Barbara Wappenschmidt, Graham Giles, Per Hall, Douglas F. Easton, Fergus J. Couch, Roger L. Milne, Annika Lindblom, Irene L Andrulis, Norbert Arnold, Sara Margolin, Stig Egil Bojesen, Joe Dennis, Anja Rudolph, Christi J. van Asperen, Gord Glendon, Amanda Spurdle, Henrik Flyger, Nichola Johnson, Janet E. Olson, Antonis C Antoniou, kConFab Investigators, David Goldgar, Thomas V O Hansen, Sean V Tavtigian, Juul T Wijnen, Peter J Hulick, Huong D Meeks, Maaike Pg Vreeswijk, Michela Raponi, Marta Santamariña, Vanessa Lau, Claude Houdayer, Bernd Dworniczak, Doris Steinemann, Ulrike Faust, Nicola K Poplawski, Emily Hallberg, Wendy S Rubinstein, Fiona M Blows, Manjeet K Bolla, Mitul Shah, Christian F Singer
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