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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Vydáno v:Front Genet
Hlavní autoři: Scimone, Concetta, Donato, Luigi, Alafaci, Concetta, Granata, Francesca, Rinaldi, Carmela, Longo, Marcello, D’Angelo, Rosalia, Sidoti, Antonina
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Genetics
On-line přístup: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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