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High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

Molecular signaling that leads to brain arteriovenous malformation (bAVM) is to date elusive and this is firstly due to the low frequency of familial cases. Conversely, sporadic bAVM is the most diffuse condition and represents the main source to characterize the genetic basis of the disease. Severa...

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Detalles Bibliográficos
Autores principales: Scimone, Concetta, Donato, Luigi, Alafaci, Concetta, Granata, Francesca, Rinaldi, Carmela, Longo, Marcello, D’Angelo, Rosalia, Sidoti, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059193/
https://www.ncbi.nlm.nih.gov/pubmed/32184807
http://dx.doi.org/10.3389/fgene.2020.00146