Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease

{"title":"Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease","authors":"Noor Ul Ain, Nina Kulkarni, Jiapeng Ruan, Audrey Ruan, Shiny Nair, Sameet Mehta, Pramod K. Mistry","doi":"10.1016/j.ymgme.2024.108633","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108633"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096719224005171","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}