Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
一名表型正常的男性携带 BRCA1 外显子 20 重复，该重复与 BRCA1 移码变异呈反式关系。
期刊:Breast Cancer Research
影响因子:5.6
doi:10.1186/s13058-023-01755-9
Block, Ines; Mateu-Regué, Àngels; Do, Thi Tuyet Nhu; Miceikaite, Ieva; Sdogati, Daniel; Larsen, Martin J; Hao, Qin; Nielsen, Henriette Roed; Boonen, Susanne E; Skytte, Anne-Bine; Jensen, Uffe Birk; Høffding, Louise K; De Nicolo, Arcangela; Viel, Alessandra; Tudini, Emma; Parsons, Michael T; Hansen, Thomas V O; Rossing, Maria; Kruse, Torben A; Spurdle, Amanda B; Thomassen, Mads
