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

Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T Parsons, Thomas V O Hansen, Maria Rossing, Torben A Kruse, Amanda B SpurdleMads Thomassen

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Biochemistry, Genetics and Molecular Biology