Long-read sequencing identified intronic repeat expansions...

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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

Zeng, Sheng, Zhang, Mei-yun, Wang, Xue-jing, Hu, Zheng-mao, Li, Jin-chen, Li, Nan, Wang, Jun-ling, Liang, Fan, Yang, Qi, Liu, Qian, Fang, Li, Hao, Jun-wei, Shi, Fu-dong, Ding, Xue-bing, Teng, Jun-fang
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Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2018-105484
Date:
September, 2018
File:
PDF, 961 KB
english, 2018
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