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.

Detalles Bibliográficos
Autores principales: López, Maria, Pérez‐Grijalba, Virginia, García‐Cobaleda, Inmaculada, Domínguez‐Garrido, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
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

Internet

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

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