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Article

Burden of rare coding variants in an Italian cohort of familial multiple sclerosis.

Journal of neuroimmunology - 15 Jan 2022

Mascia E, Clarelli F, Zauli A, Guaschino C, Sorosina M, Barizzone N, Basagni C, Santoro S, Ferrè L, Bonfiglio S, Biancolini D, Pozzato M, Guerini F R, Protti A, Liguori M, Moiola L, Vecchio D, Bresolin N, Comi G, Filippi M, Esposito F, D'Alfonso S, Martinelli-Boneschi F

Abstract excerpt

BACKGROUND: Multiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative demyelinating disease of the central nervous system. It is a complex and heterogeneous disease caused by a combination of genetic and environmental factors, and it can cluster in families. OBJECTIVE: to evaluate at gene-level the aggregate contribution of predicted damaging low-frequency and rare variants to MS risk in multiplex...

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Identifiers

PMID: 34922125
DOI: 10.1016/j.jneuroim.2021.577760

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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