A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
DKC1 核定位信号的错义变异导致 Hoyeraal-Hreidarsson 综合征
期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-022-00335-8
Chia-Mei Chu #, Hsin-Hui Yu #, Tsai-Ling Kao, Yi-Hsuan Chen, Hsuan-Hsuan Lu, En-Ting Wu, Yun-Li Yang, Chin-Hsien Lin, Shin-Yu Lin, Meng-Ju Melody Tsai, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Pin Chen, Ni-Chung Lee, Chi-Kang Tseng
