The Charcot-Marie-Tooth disease gene curation expert panel (ClinGen)

被引:0
作者
Rebelo, Adriana [1 ]
Bis-Brewer, Dana [2 ]
Thaxton, Courtney [3 ]
Flowers, May [3 ]
Dohrn, Maike [4 ]
Saba, Sadaf [5 ]
Elloumi, Houda [6 ]
Phatak, Amruta [7 ]
Callegari, Ilaria [8 ]
Seyedsadjadi, Reza [9 ]
Herrmann, David [10 ]
Cortese, Andrea [11 ]
Battaloglu, Esra [12 ]
Stojkovic, Tanya [13 ]
Scherer, Steven [14 ]
Zuchner, Stephan [15 ]
机构
[1] Univ Miami, Miami, FL USA
[2] GeneDx, Miami, FL USA
[3] Univ N Carolina, Chapel Hill, NC 27515 USA
[4] Univ Miami, John P Hussman Inst Human Genom, Miami, FL USA
[5] Wayne State Univ, Detroit, MI USA
[6] GeneDX, Gaithersburg, MD USA
[7] Indiana Univ, Bloomington, IN USA
[8] Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy
[9] Harvard Univ, Cambridge, MA 02138 USA
[10] Univ Rochester, Dept Neurol, Rochester, NY USA
[11] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[12] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey
[13] Inst Myol, Paris, France
[14] Univ Penn, Philadelphia, PA 19104 USA
[15] Univ Miami, Miller Sch Med, Miami, FL 33136 USA
关键词
CMT; ClinGen; disease genes; variants;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
260
引用
收藏
页码:423 / 424
页数:2
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