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Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis

1 Jul 2025

Abstract excerpt

Multiple sclerosis (MS) is an immune-mediated neurodegenerative disease affecting the central nervous system with many known genetic risk factors. Although genome-wide association studies (GWAS) have identified common genetic variants with small effects associated with MS, the role of rare variants with large effects in MS aetiology remains underexplored. We hypothesized that rare variants in MS-associated genes...

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PMID: 40592943
DOI: 10.1038/s41598-025-04741-7

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