Additional file 1 of Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

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

doi:10.6084/m9.figshare.24971361.v1

13058_2023_1755_MOESM1_ESM.docx (1.37 MB)

Additional file 1 of Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

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posted on 2024-01-10, 04:40 authored by 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. Spurdle, Mads Thomassen

Additional file 1. Supplementary Tables and Figures.

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Australian NHMRC Investigator Fellowship Odense Universitetshospital University of Southern Denmark

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BRCA1 Dual carrier Fanconi Anemia Variant classification Exon duplication Transcription activation domain assay

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Additional file 1 of Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

Funding

Australian NHMRC Investigator Fellowship Odense Universitetshospital University of Southern Denmark

History

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