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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Bibliographische Detailangaben
Veröffentlicht in:Front Genet
Hauptverfasser: Scimone, Concetta, Donato, Luigi, Alafaci, Concetta, Granata, Francesca, Rinaldi, Carmela, Longo, Marcello, D’Angelo, Rosalia, Sidoti, Antonina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2020
Schlagworte:
Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7059193/
https://ncbi.nlm.nih.gov/pubmed/32184807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00146
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