A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature
P. Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, Y. Eshaghkhani, Meisam Babaei, Zahra Golchehre, Seyedeh Roksana Taheri, Sepideh Hasani, Mahdieh Taghizadeh, M. Keramatipour
{"title":"A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature","authors":"P. Nourmohammadi, Mostafa Asadollahi, Arezou Karamzade, Y. Eshaghkhani, Meisam Babaei, Zahra Golchehre, Seyedeh Roksana Taheri, Sepideh Hasani, Mahdieh Taghizadeh, M. Keramatipour","doi":"10.1007/s12041-023-01436-8","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":49279,"journal":{"name":"the Korean Journal of Genetics","volume":"13 5 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"the Korean Journal of Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12041-023-01436-8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}