Indian Academy of Sciences
A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family
Hong Guo Xueqing Xu Kai Wang Bo Zhang Guohong Deng Yan Wang Yun Bai
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X-linked spondyloepiphyseal dysplasia tarda (SEDT); trafficking protein particle complex 2 (TRAPPC2); mutation; alternate splicing; human genetics; Chinese population.
Hong Guo1 Xueqing Xu1 Kai Wang1 Bo Zhang1 Guohong Deng2 Yan Wang1 Yun Bai1
Volume 100, 2021 All articles Continuous Article Publishing mode
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