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Article

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Journal of neurology - 1 Dec 2022

Jafarpour Saba, Banerjee Abhik, Boyd Natalie K, Vogel Benjamin N, Paulsen Kelli C, Ahsan Nusrat, Mitchell Wendy G, Jeste Shafali S, Santoro Jonathan D

Abstract excerpt

BACKGROUND: There is a gap in the literature regarding genetic underpinnings of pediatric autoimmune CNS diseases. This study explored rare gene variants implicated in immune dysregulation within these disorders. METHODS: This was a single-center observational study of children with inflammatory CNS disorder who had genetic testing through next generation focused exome sequencing targeting 155 genes associated...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35960392
DOI: 10.1007/s00415-022-11325-2
PMCID: PMC9372976

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