A splice‐site mutation leads to haploinsufficiency of <i>EXT2</i> mRNA for a dominant trait in a large family with multiple osteochondromas
Yang Liu(Ludong University), Danny Chan(HKU-Pasteur Research Pole), Wilson Cheuk Wing Chan(University of Hong Kong - Shenzhen Hospital), Kathryn S.E. Cheah(Chinese University of Hong Kong), Zhoujing Luo(Faculty of 1000 (United Kingdom)), Teresa H. Y. Yam(University of Hong Kong), Kmc Cheung(Shenzhen Metro (China)), Wing Sum Hui(University of Hong Kong), Helen C.M. Leung(University of Hong Kong), Qiang Jie(Air Force Medical University), Daisy Kwok‐Yan Shum(Hong Kong Virtual University), Jian‐Dong Huang(Sun Yat-sen University), Vivian Ng(Lawrence Berkeley National Laboratory)
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