A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

Abstract Pathogenicity assessment of genetic variants is the cornerstone of genetic counselling. Copy gains of exons are challenging, as pathogenicity depends on the localization of the additional exons. Eight patients form six families carried copy gains of BRCA1 exons 8–20. For appropriate charact...

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Библиографические подробности

Главные авторы:	Mathias Schwartz, Mathilde Filser, Kevin Merchadou, Elisa Lemaitre, Khadija Abidallah, Henrique Tenreiro, Catherine Dubois D’enghien, Audrey Rapinat, Elise Pierre-Noel, Voreak Suybeng, Marion Espenel, Sylvain Baulande, Séverine Adams, Audrey Remenieras, Crystal Renaud, Camille Aucouturier, Capucine Delnatte, Céline Garrec, Victor Renault, Lisa Golmard, Emmanuelle Fourme, Julien Masliah-Planchon, Sandrine M. Caputo
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Nature Portfolio 2025-07-01
Серии:	npj Genomic Medicine
Online-ссылка:	https://doi.org/10.1038/s41525-025-00517-0
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