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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Academic Journal
Colombo, M; Lopez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; Li, HY; De Vecchi, G; Tudini, E; Foglia, C; Mondini, P; Manoukian, S; Behar, R; Garcia, EBG; Meindl, A; Montagna, M; Niederacher, D; Schmidt, AY; Varesco, L; Wappenschmidt, B; Bolla, MK; Dennis, J; Michailidou, K; Wang, Q; Aittomaki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Beckmann, MW; Beeghly-Fadel, A; Benitez, J; Boeckx, B; Bogdanova, NV; Bojesen, SE; Bonanni, B; Brauch, H; Brenner, H; Burwinkel, B; Chang-Claude, J; Conroy, DM; Couch, FJ; Cox, A; Cross, SS; Czene, K; Devilee, P; Dork, T; Eriksson, M; Fasching, PA; Figueroa, J; Fletcher, O; Flyger, H; Gabrielson, M; Garcia-Closas, M; Giles, GG; Gonzalez-Neira, A; Guenel, P; Haiman, CA; Hall, P; Hamann, U; Hartman, M; Hauke, J; Hollestelle, A; Hopper, JL; Jakubowska, A; Jung, A; Kosma, VM; Lambrechts, D; Le Marchand, L; Lindblom, A; Lubinski, J; Mannermaa, A; Margolin, S; Miao, H; Milne, RL; Neuhausen, SL; Nevanlinna, H; Olson, JE; Peterlongo, P; Peto, J; Pylkas, K; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Schneeweiss, A; Schoemaker, MJ; See, MH; Southey, MC; Swerdlow, A; Teo, SH; Toland, AE; Tomlinson, I; Truong, T; van Asperen, CJ; van den Ouweland, AMW; van der Kolk, LE; Winqvist, R; Yannoukakos, D; Zheng, W; Dunning, AM; Easton, DF; Henderson, A; Hogervorst, FBL; Izatt, L; Offitt, K; Side, LE; van Rensburg, EJ; McGuffog, L; Antoniou, AC; Chenevix-Trench, G; Spurdle, AB; Goldgar, DE; de la Hoya, M; Radice, P
Human mutation. 39(5):729-741
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Electronic Resource
Colombo , M , Lopez-Perolio , I , Meeks , H D , Caleca , L , Parsons , MT , Li , HY , De Vecchi , G , Tudini , E , Foglia , C , Mondini , P , Manoukian , S , Behar , R , Garcia , EBG , Meindl , A , Montagna , M , Niederacher , D , Schmidt , AY , Varesco , L , Wappenschmidt , B , Bolla , MK , Dennis , J , Michailidou , K , Wang , Q , Aittomaki , K , Andrulis , IL , Anton-Culver , H , Arndt , V , Beckmann , MW , Beeghly -Fadel , A , Benitez , J , Boeckx , B , Bogdanova , NV , Bojesen , SE , Bonanni , B , Brauch , H , Brenner , H , Burwinkel , B , Chang-Claude , J , Conroy , D M , Couch , FJ , Cox , A , Cross , SS , Czene , K , Devilee , P , Dork , T , Eriksson , M , Fasching , PA , Figueroa , J , Fletcher , O , Flyger , H , Gabrielson , M , Garcia-Closas , M , Giles , GG , Gonzalez-Neira , A , Guenel , P , Haiman , CA , Hall , P , Hamann , U , Hartman , M , Hauke , J , Hollestelle , A , Hopper , JL , Jakubowska , A , Jung , A , Kosma , VM , Lambrechts , D , Le Marchand , L , Lindblom , A , Lubinski , J , Mannermaa , A , Margolin , S , Miao , H , Milne , RL , Neuhausen , SL , Nevanlinna , H , Olson , JE , Peterlongo , P , Peto , J , Pylkas , K , Sawyer , EJ , Schmidt , MK , Schmutzler , RK , Schneeweiss , A , Schoemaker , MJ , See , MH , Southey , MC , Swerdlow , A , Teo , SH , Toland , AE , Tomlinson , I , Truong , T , van Asperen , CJ , van den Ouweland , A , van der Kolk , LE , Winqvist , R , Yannoukakos , D , Zheng , W , Dunning , AM , Easton , DF , Henderson , A , Hogervorst , FBL , Izatt , L , Offitt , K , Side , LE , van Rensburg , EJ , McGuffog , L , Antoniou , AC , Chenevix-Trench , G , Spurdle , AB , Goldgar , DE , de la Hoya , M & Radice , P 2018 , ' The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity ' , Human Mutation , vol. 39 , no. 5 , pp. 729-741 .
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[검색어] Beeghly-Fadel, A.
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