Clinical standards and interpretation of gene sequence variants in human Mendelian disorders

B. Tang, Sheng Zeng, Kai Li
{"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·
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
人类孟德尔疾病基因序列变异的临床标准和解释
人类孟德尔病基因序列变异的临床标准与解读唐蓓莎1,2,曾胜1,李凯1中南大学湘雅医院神经内科医学遗传学国家重点实验室,国家老年病临床研究中心,湖南长沙410008通讯作者:唐蓓莎(Email:bstang7398@163.com)国家自然科学基金重点项目(81130021)资助。·专论·
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
中国现代神经疾病杂志
中国现代神经疾病杂志 Medicine-Neurology (clinical)
CiteScore
0.40
自引率
0.00%
发文量
4914
审稿时长
10 weeks
期刊介绍:
期刊最新文献
Analysis of related factors for restless legs syndrome in hemodialysis patients The role of butyrylcholinesterase in the pathogenesis of Alzheimer's disease Risk factors for in-stent restenosis of vertebral artery origin after stent implantation: a Meta-analysis Interpretation of "Chinese classification of cerebrovascular diseases (2015)" Analysis on risk factors for post-stroke emotional incontinence
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1