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Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13

BACKGROUND: Complex chromosomal rearrangements (CCRs) are associated with high reproductive risk, infertility, abnormalities in offspring, and recurrent miscarriage in women. It is essential to accurately characterize apparently balanced chromosome rearrangements in unaffected individuals. METHODS:...

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Detalles Bibliográficos
Autores principales: Xing, Lingling, Shen, Ying, Wei, Xiang, Luo, Yuan, Yang, Yan, Liu, Haipeng, Liu, Hongqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482406/
https://www.ncbi.nlm.nih.gov/pubmed/35758276
http://dx.doi.org/10.1002/mgg3.2011