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Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population

Genome-wide association studies identified over 200 risk loci for multiple sclerosis (MS) focusing on common variants, which account for about 50% of disease heritability. The goal of this study was to investigate whether low-frequency and rare functional variants, located in MS-established associat...

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Hlavní autoři: Ferdinando Clarelli, Nadia Barizzone, Eleonora Mangano, Miriam Zuccalà, Chiara Basagni, Santosh Anand, Melissa Sorosina, Elisabetta Mascia, Silvia Santoro, PROGEMUS, PROGRESSO, Franca Rosa Guerini, Eleonora Virgilio, Antonio Gallo, Alessandro Pizzino, Cristoforo Comi, Vittorio Martinelli, Giancarlo Comi, Gianluca De Bellis, Maurizio Leone, Massimo Filippi, Federica Esposito, Roberta Bordoni, Filippo Martinelli Boneschi, Sandra D'Alfonso, P Crociani, D Vecchio, P Ragonese, A Gajofatto, E Scarpini, A Bertolotto, D Caputo, C Gasperini, F Granella, S Cordera, P Cavallo, R Cavallo, R Bergamaschi, G Ristori, C Solaro, F Martinelli, F Passantino, M Pugliatti, A Gallo, L Brambilla, C Clerico, F Capone, F Esposito, G Liberatore, M Rodegher, p Rossi, M Radaelli, L Moiola, B Colombo, A Ghezzi, A Annovazzi, R Capra, G Coniglio, M. P Amato, B Nacmias, G Tedeschi, A D’Ambrosio, P Cavalla, F Patti, E D’Amico, D Galimberti, P Gallo, M Atzori, L Grimaldi, S Bucello, G Mancardi, E Capello
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2022-01-01
Edice:Frontiers in Genetics
Témata:
multiple sclerosis
rare variants
EFCAB13
pool sequencing
burden test
On-line přístup:https://www.frontiersin.org/articles/10.3389/fgene.2021.800262/full
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