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Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage

STUDY QUESTION: Can whole exome sequencing (WES) followed by trio bioinformatics analysis identify novel pathogenic genetic causes of first trimester euploid miscarriage? SUMMARY ANSWER: We identified genetic variants in six candidate genes that indicated plausible underlying causes of first-trimest...

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Detalles Bibliográficos
Autores principales: Wang, Xiyao, Shi, Wenqiang, Zhao, Shaotong, Gong, Deshun, Li, Shuo, Hu, Cuiping, Chen, Zi-Jiang, Li, Yan, Yan, Junhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152170/
https://www.ncbi.nlm.nih.gov/pubmed/36864708
http://dx.doi.org/10.1093/humrep/dead039