Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Seizures and CLN5[original query] |
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CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology 2010 Feb 74 (7): 565-71. Xin W, Mullen T E, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole S E, Goebel H H, Sims |
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. BMC medical genetics 2020 5 21 (1): 100. Li Wei, Fan Xin, Zhang Yue, Huang Limei, Jiang Tingting, Qin Zailong, Su Jiasun, Luo Jingrong, Yi Shang, Zhang Shujie, Shen Yipi |
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