{"title":"A generalizable multiplexed assay of variant effects for secreted proteins","authors":"","doi":"10.1038/s41594-025-01583-9","DOIUrl":null,"url":null,"abstract":"We created an assay to simultaneously measure the effects of variants in secreted proteins at scale. We used the assay to map the effects of all possible missense variants on factor IX secretion and γ-carboxylation. The resulting data reclassified more than 60% of variants of uncertain significance in hemophilia B.","PeriodicalId":18822,"journal":{"name":"Nature structural & molecular biology","volume":"53 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature structural & molecular biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1038/s41594-025-01583-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We created an assay to simultaneously measure the effects of variants in secreted proteins at scale. We used the assay to map the effects of all possible missense variants on factor IX secretion and γ-carboxylation. The resulting data reclassified more than 60% of variants of uncertain significance in hemophilia B.
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