Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

BACKGROUND: Premature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic factors account for 20–25% of cases. However, how to transform genetic findings to clinical molecular diagnose remains a challenge. To identify potent...

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Detalles Bibliográficos
Autores principales: Luo, Wei, Ke, Hanni, Tang, Shuyan, Jiao, Xue, Li, Zhuqing, Zhao, Shidou, Zhang, Feng, Guo, Ting, Qin, Yingying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930292/
https://www.ncbi.nlm.nih.gov/pubmed/36793102
http://dx.doi.org/10.1186/s13048-023-01104-6

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