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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...

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Detalhes bibliográficos
Publicado no:J Assist Reprod Genet
Main Authors: Yang, Xiang, Touraine, Philippe, Desai, Swapna, Humphreys, Gregory, Jiang, Huaiyang, Yatsenko, Alexander, Rajkovic, Aleksandar
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2018
Assuntos:
Acesso em linha: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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