A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.
Schwartz M, Filser M, Merchadou K, Lemaitre E, Abidallah K, Tenreiro H, Dubois D'enghien C, Rapinat A, Pierre-Noel E, Suybeng V, Espenel M, Baulande S, Adams S, Remenieras A, Renaud C, Aucouturier C, Delnatte C, Garrec C, Renault V, Golmard L, Fourme E, Masliah-Planchon J, Caputo SM.
Schwartz M, et al.
NPJ Genom Med. 2025 Jul 31;10(1):58. doi: 10.1038/s41525-025-00517-0.
NPJ Genom Med. 2025.
PMID: 40744942
Free PMC article.