The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

10.1002/humu.23411

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Bibliographic Details
Main Authors: Colombo, M, Lòpez-Perolio, I, Meeks, H.D, Caleca, L, Parsons, M.T, Li, H, De Vecchi, G, Tudini, E, Foglia, C, Mondini, P, Manoukian, S, Behar, R, Garcia, E.B.G, Meindl, A, Montagna, M, Niederacher, D, Schmidt, A.Y, Varesco, L, Wappenschmidt, B, Bolla, M.K, Dennis, J, Michailidou, K, Wang, Q, Aittomäki, K, Andrulis, I.L, Anton-Culver, H, Arndt, V, Beckmann, M.W, Beeghly-Fadel, A, Benitez, J, Boeckx, B, Bogdanova, N.V, Bojesen, S.E, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Chang-Claude, J, Conroy, D.M, Couch, F.J, Cox, A, Cross, S.S, Czene, K, Devilee, P, Dörk, T, Eriksson, M, Fasching, P.A, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, García-Closas, M, Giles, G.G, González-Neira, A, Guénel, P, Haiman, C.A, Hall, P, Hamann, U, Hartman, M, Hauke, J, Hollestelle, A, Hopper, J.L, Jakubowska, A, Jung, A, Kosma, V.-M, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Miao, H, Milne, R.L, Neuhausen, S.L, Nevanlinna, H, Olson, J.E, Peterlongo, P, Peto, J, Pylkäs, K, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Schneeweiss, A, Schoemaker, M.J, See, M.H, Southey, M.C, Swerdlow, A, Teo, S.H, Toland, A.E, Tomlinson, I, Truong, T, van Asperen, C.J, van den Ouweland, A.M.W, van der Kolk, L.E, Winqvist, R, Yannoukakos, D, Zheng, W, Dunning, A.M, Easton, D.F, Henderson, A, Hogervorst, F.B.L, Izatt, L, Offitt, K, Side, L.E, van Rensburg, E.J, Embrace, S, Hebon, S, McGuffog, L, Antoniou, A.C, Chenevix-Trench, G, Spurdle, A.B, Goldgar, D.E, Hoya, M.D.L, Radice, P, kConFab/AOCS Investigators, Seah, S
Other Authors: SURGERY
Format: Article
Published: John Wiley and Sons Inc. 2020
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Online Access:https://scholarbank.nus.edu.sg/handle/10635/175117
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Institution: National University of Singapore