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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Bibliographic Details

Main Authors:	Concetta Scimone, Luigi Donato, Concetta Alafaci, Francesca Granata, Carmela Rinaldi, Marcello Longo, Rosalia D’Angelo, Antonina Sidoti
Format:	Artigo
Language:	Inglês
Published:	Frontiers Media S.A. 2020-02-01
Series:	Frontiers in Genetics
Subjects:	brain arteriovenous malformations pathogenic variants exome molecular signaling vascular differentiation
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2020.00146/full
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