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Whole-genome sequencing: identification of additional pathogenic variation across the genome

This scientific commentary refers to ‘Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox–Gastaut syndrome’, by Qaiser et al. (https://doi.org/10.1093/braincomms/fcab207).

Detalles Bibliográficos
Autores principales: Mills, James Dominic, Sisodiya, Sanjay M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8634381/
https://www.ncbi.nlm.nih.gov/pubmed/34859220
http://dx.doi.org/10.1093/braincomms/fcab280