학술논문

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Document Type
Artikel
Author
Colombo, MLopez-Perolio, IMeeks, HDCaleca, LParsons, MTLi, HYDe Vecchi, GTudini, EFoglia, CMondini, PManoukian, SBehar, RGarcia, EBGMeindl, AMontagna, MNiederacher, DSchmidt, AYVaresco, LWappenschmidt, BBolla, MKDennis, JMichailidou, KWang, QAittomaki, KAndrulis, ILAnton-Culver, HArndt, VBeckmann, MWBeeghly-Fadel, ABenitez, JBoeckx, BBogdanova, NVBojesen, SEBonanni, BBrauch, HBrenner, HBurwinkel, BChang-Claude, JConroy, DMCouch, FJCox, ACross, SSCzene, KDevilee, PDork, TEriksson, MFasching, PAFigueroa, JFletcher, OFlyger, HGabrielson, MGarcia-Closas, MGiles, GGGonzalez-Neira, AGuenel, PHaiman, CAHall, PHamann, UHartman, MHauke, JHollestelle, AHopper, JLJakubowska, AJung, AKosma, VMLambrechts, DLe Marchand, LLindblom, ALubinski, JMannermaa, AMargolin, SMiao, HMilne, RLNeuhausen, SLNevanlinna, HOlson, JEPeterlongo, PPeto, JPylkas, KSawyer, EJSchmidt, MKSchmutzler, RKSchneeweiss, ASchoemaker, MJSee, MHSouthey, MCSwerdlow, ATeo, SHToland, AETomlinson, ITruong, Tvan Asperen, CJvan den Ouweland, AMWvan der Kolk, LEWinqvist, RYannoukakos, DZheng, WDunning, AMEaston, DFHenderson, AHogervorst, FBLIzatt, LOffitt, KSide, LEvan Rensburg, EJMcGuffog, LAntoniou, ACChenevix-Trench, GSpurdle, ABGoldgar, DEde la Hoya, MRadice, P
Source
Human mutation. 39(5):729-741
Subject
Medicin och hälsovetenskap
Language
English
English
ISSN
1098-1004