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OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually performed to confirm the clinical diagnosis in ADPKD. Reci...

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Detalles Bibliográficos
Autores principales:	Xu, Peiwen, Wang, Lijuan, Li, Jing, Huang, Sexin, Gao, Ming, Kang, Ranran, Li, Jie, Xie, Hongqiang, Liu, Xiaowei, Yan, Junhao, Gao, Xuan, Gao, Yuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642002/ https://www.ncbi.nlm.nih.gov/pubmed/37953234 http://dx.doi.org/10.1186/s12920-023-01725-2

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