Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.

Multiple sclerosis (Houndmills, Basingstoke, England)(2023)

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摘要
Findings support a role for rare coding variants in POMS susceptibility. In particular, rare minor alleles within were more common among individuals with POMS compared to controls while the opposite was true for rare variants within significant MHC genes, and . These genes would not have been identified by common variant studies, emphasizing the merits of investigating rare genetic variation in complex diseases.
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关键词
GWAS,Multiple sclerosis,POMS,pediatric-onset,rare variants
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