F. Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, A. Seibt, A. Gangfuss, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, S. Nikolin, Joachim Weis, Andreas Roos, Tobias B. Haack
{"title":"Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.","authors":"F. Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, A. Seibt, A. Gangfuss, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, S. Nikolin, Joachim Weis, Andreas Roos, Tobias B. Haack","doi":"10.1093/brain/awae099","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":121505,"journal":{"name":"Brain : a journal of neurology","volume":" 8","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain : a journal of neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/brain/awae099","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
