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
Wěi Li(Shougang (China)), Yiping Shen(Zhejiang Chinese Medical University), Zailong Qin(Guangxi Maternal and Child Health Hospital), Limei Huang(Guangxi Maternal and Child Health Hospital), Yue Zhang(Southern Medical University), Jiasun Su(Guangxi Maternal and Child Health Hospital), Xin Fan(Guangxi Medical University), Shujie Zhang(Northeast Normal University), Jingrong Luo(Guangxi Maternal and Child Health Hospital), Shang Yi(Guangxi Maternal and Child Health Hospital), Tingting Jiang(Harbin Medical University)
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