Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology

"Primary ovarian insufficiency (POI) is a frequently occurring disease affecting women under 40 years old. Recently, we have analyzed unrelated POI women via whole exome sequencing (WES) and identified NOTCH2 mutations underlying possible functional effects. The present study involved reanalyzi...

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Detalles Bibliográficos
Autores Principales: Patiño L.C., Beau I., Morel A., Delemer B., Young J., Binart N., Laissue P.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/24228
https://doi.org/10.1002/humu.23667