Articles with "rare regulatory" as a keyword



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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

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Published in 2018 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-018-0297-x

Abstract: Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical presentation and complex etiology involving the interplay between genetic, epigenetic, environmental and hormonal factors. Many common SNPs identified by genome wide-association studies (GWAS) explain… read more here.

Keywords: rare regulatory; regulatory variant; variant; associated sle ... See more keywords