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Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency

PURPOSE: To investigate the potential genetic etiology of premature ovarian insufficiency (POI). METHODS: Whole-exome sequencing (WES) was done on DNA samples from women diagnosed with POI. Mutations identified were analyzed by in silico tools and were annotated according to the guidelines of the Am...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Assist Reprod Genet
Hauptverfasser: Yang, Xiang, Touraine, Philippe, Desai, Swapna, Humphreys, Gregory, Jiang, Huaiyang, Yatsenko, Alexander, Rajkovic, Aleksandar
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6338598/
https://ncbi.nlm.nih.gov/pubmed/30406445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-018-1349-4
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