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A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
Detecting clinical grade CNV based on WES is being improved in the NGS era.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752442/ https://www.ncbi.nlm.nih.gov/pubmed/33363903 http://dx.doi.org/10.1002/ccr3.3381 |