Although this variant is classified as one of the C1INH benign variants ( https://www.ncbi.nlm.nih.gov/clinvar/variation/254786/ ) and yielded conflicting results with age-related macular degeneration ( 35 ), interestingly, it showed a trend of association with susceptibility to staphylococcal aureus colonization of the nose ( 36 ).
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Component 1 Inhibitor Missense (Val480Met) Variant Is Associated With Gene Expression and Sepsis Development in Neonatal Lung Disease.
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