Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

STUDY QUESTION: Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes confirming their deleterious effect on ovarian function? SUMM...

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Detalles Bibliográficos
Autores principales: Bestetti, I, Barbieri, C, Sironi, A, Specchia, V, Yatsenko, S A, De Donno, M D, Caslini, C, Gentilini, D, Crippa, M, Larizza, L, Marozzi, A, Rajkovic, A, Toniolo, D, Bozzetti, M P, Finelli, P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8523209/
https://www.ncbi.nlm.nih.gov/pubmed/34480478
http://dx.doi.org/10.1093/humrep/deab192

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