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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection methods. The giant nebulin gene is expressed in skel...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109913/ https://www.ncbi.nlm.nih.gov/pubmed/35576196 http://dx.doi.org/10.1371/journal.pone.0267793 |