Li, Leping, Perera, Lalith, Varghese, Sonia A., Shiloh-Malawsky, Yael, Hunter, Senyene E., Sneddon, Tam P., Powell, Cynthia M., Matera, A. Gregory, Fan, Zheng
{"title":"A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization","authors":"Li, Leping, Perera, Lalith, Varghese, Sonia A., Shiloh-Malawsky, Yael, Hunter, Senyene E., Sneddon, Tam P., Powell, Cynthia M., Matera, A. Gregory, Fan, Zheng","doi":"10.17615/7dt9-nx77","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":472453,"journal":{"name":"Carolina Digital Repository (University of North Carolina at Chapel Hill)","volume":"35 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Carolina Digital Repository (University of North Carolina at Chapel Hill)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17615/7dt9-nx77","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}