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A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

BACKGROUND: To dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family. METHODS: Whole-exome sequencing of the proband was performed and DOR and Sanger sequencing was carried out to validate presence of the variant in the proba...

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Foilsithe in:J Ovarian Res
Main Authors: Zhao, Minying, Feng, Fan, Chu, Chunfang, Yue, Wentao, Li, Lin
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2019
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6896303/
https://ncbi.nlm.nih.gov/pubmed/31810472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13048-019-0595-0
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