HuGE Literature Finder
Records 1-3
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
Human mutation 2019 Feb . Zhou Wei-Zhen, Zhang Jie, Li Ziyi, Lin Xiaojing, Li Jiarui, Wang Sheng, Yang Changhong, Wu Qixi, Ye Adam Yongxin, Wang Meng, Wang Dandan, Pu Tad Zhengzhang, Wu Yu-Yu, Wei Lipi |
ADGRV1 is implicated in myoclonic epilepsy.
Epilepsia 2017 Dec . Myers Kenneth A, Nasioulas Steven, Boys Amber, McMahon Jacinta M, Slater Howard, Lockhart Paul, Sart Desirée du, Scheffer Ingrid |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Human mutation 2010 Jun 31 (6): 722-33. Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani |
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- Page last updated:Apr 15, 2021
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