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Identification of a familial complex chromosomal rearrangement by optical genome mapping

BACKGROUND: Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion. With the development of cytogenetic and molecular genetic techniques, some chromosomal rearrangements that were...

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Detalles Bibliográficos
Autores principales:	Yang, Yang, Hao, Wang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490972/ https://www.ncbi.nlm.nih.gov/pubmed/36127686 http://dx.doi.org/10.1186/s13039-022-00619-9

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