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National-scale genomic diagnosis of rare diseases in China
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作者 Xiaodong Luan Ye Jin +18 位作者 Liping Guan Peng Liu Hailong Feng Dingding Zhang Jingdan Chen Weida Liu Fangyuan Li Anqi Wang Kun Zhao Ruirui He Hankui Liu Shida Zhu Shuang Yang Lijian Zhao Jian Wang Linkang Li Dan Guo Jianguo Zhang Shuyang Zhang 《Science Bulletin》 2025年第20期3324-3328,共5页
In China,an estimated 48.42-82.11 million individuals are affected by rare diseases.This estimate is derived from the Orphanet database,based on the global population of 7.55 billion and China's population of 1.39... In China,an estimated 48.42-82.11 million individuals are affected by rare diseases.This estimate is derived from the Orphanet database,based on the global population of 7.55 billion and China's population of 1.39 billion in 2017(source:National Bureau of Statistics of China)[1,2]. 展开更多
关键词 national scale genomic diagnosis population estimate orphanet database orphanet databasebased rare diseases China
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