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Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome
Li, Dongxiao, Song, Jinqing, Li, Xiyuan, Liu, Yi, Dong, Hui, Kang, Lulu, Liu, Yupeng, Zhang, Yao, Jin, Ying, Guan, Hanzhou, Zhou, Chongchen, Yang, YanlingJournal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104003
Date:
July, 2020
File:
PDF, 2.71 MB
2020