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1 Ergebnisse
1
Male with an apparently normal phenotype carrying a BRCA1 e..:
Ines Block
;
Àngels Mateu-Regué
;
Thi Tuyet Nhu Do
...
https://doi.org/10.1186/s13058-023-01755-9. , 2024
Link:
https://doi.org/10.1186/s13058-023-01755-9
RT Journal T1
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:7555813f6f454c71871a5c318d759708&Exemplar=1&LAN=DE A1 Ines Block A1 Àngels Mateu-Regué A1 Thi Tuyet Nhu Do A1 Ieva Miceikaite A1 Daniel Sdogati A1 Martin J. Larsen A1 Qin Hao A1 Henriette Roed Nielsen A1 Susanne E. Boonen A1 Anne-Bine Skytte A1 Uffe Birk Jensen A1 Louise K. Høffding A1 Arcangela De Nicolo A1 Alessandra Viel A1 Emma Tudini A1 Michael T. Parsons A1 Thomas V. O. Hansen A1 Maria Rossing A1 Torben A. Kruse A1 Amanda B. Spurdle A1 Mads Thomassen PB BMC YR 2024 K1 BRCA1 K1 Dual carrier K1 Fanconi Anemia K1 Variant classification K1 Exon duplication K1 Transcription activation domain assay K1 Neoplasms. Tumors. Oncology. Including cancer and carcinogens K1 RC254-282 JF https://doi.org/10.1186/s13058-023-01755-9 LK http://dx.doi.org/https://doi.org/10.1186/s13058-023-01755-9 DO https://doi.org/10.1186/s13058-023-01755-9 SF ELIB - SuUB Bremen
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