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by 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, Nimmrichter, S, Scarani, V
Published 2020
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
by 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
Published 2020
Get full textPublished 2020
Article