{"title":"Presentation of a recurrent FMR1 missense mutation (R138Q) in an affected female","authors":"Jullianne Diaz, C. Scheiner, E. Leon","doi":"10.3233/TRD-180028","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":75246,"journal":{"name":"Translational science of rare diseases","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3233/TRD-180028","citationCount":"8","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Translational science of rare diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3233/TRD-180028","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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