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From karyotypes to precision genomics in 9p deletion and duplication syndromes

While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a comprehensive delineation of genotypic and phenotypic characteristics. In this study, we examined genetic data from 719 individuals in the worldwide 9p...

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Detalles Bibliográficos
Autores principales: Sams, Eleanor I., Ng, Jeffrey K., Tate, Victoria, Claire Hou, Ying-Chen, Cao, Yang, Antonacci-Fulton, Lucinda, Belhassan, Khadija, Neidich, Julie, Mitra, Robi D., Cole, F. Sessions, Dickson, Patricia, Milbrandt, Jeffrey, Turner, Tychele N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756500/
https://www.ncbi.nlm.nih.gov/pubmed/35047865
http://dx.doi.org/10.1016/j.xhgg.2021.100081

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