Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

2024 . 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