Mustafa Doğan, Ekrem Akbulut, A. Gezdirici, R. Eroz, S. Bozdoğan
{"title":"Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype","authors":"Mustafa Doğan, Ekrem Akbulut, A. Gezdirici, R. Eroz, S. Bozdoğan","doi":"10.3103/S0095452723040035","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":0,"journal":{"name":"","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3103/S0095452723040035","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}