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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

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

Publication date March 23, 2016
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