Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes

Deletions in the CCM1, CCM2, and CCM3 genes are a common cause of familial cerebral cavernous malformations (CCMs). In current molecular genetic laboratories, targeted next-generation sequencing or multiplex ligation-dependent probe amplification are mostly used to identify copy number variants (CNV...

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Detalles Bibliográficos
Autores principales: Skowronek, Dariush, Pilz, Robin A., Bonde, Loisa, Schamuhn, Ole J., Feldmann, Janne L., Hoffjan, Sabine, Much, Christiane D., Felbor, Ute, Rath, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779250/
https://www.ncbi.nlm.nih.gov/pubmed/36555281
http://dx.doi.org/10.3390/ijms232415639

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