{"title":"Clinical standards and interpretation of gene sequence variants in human Mendelian disorders","authors":"B. Tang, Sheng Zeng, Kai Li","doi":"10.3969/cjcnn.v17i7.1624","DOIUrl":null,"url":null,"abstract":"Clinical standards and interpretation of gene sequence variants in human Mendelian disorders TANG Bei⁃sha1, 2, ZENG Sheng1, LI Kai1 Department of Neurology, Xiangya Hospital, State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu'nan, China Corresponding author: TANG Bei⁃sha (Email: bstang7398@163.com) This study was supported by Key Project of the National Natural Science Foundation of China (No. 81130021). ·专论·","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"471-476"},"PeriodicalIF":0.0000,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国现代神经疾病杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3969/cjcnn.v17i7.1624","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Clinical standards and interpretation of gene sequence variants in human Mendelian disorders TANG Bei⁃sha1, 2, ZENG Sheng1, LI Kai1 Department of Neurology, Xiangya Hospital, State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu'nan, China Corresponding author: TANG Bei⁃sha (Email: bstang7398@163.com) This study was supported by Key Project of the National Natural Science Foundation of China (No. 81130021). ·专论·