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SaveGenetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
Guo, Yaqing; Zhu, Xinyun; Song, Liying; Wang, Yu; Gao, Jinshuang; Yuan, Erfeng; Yu, Haiyang; Fang, Yang; Shi, Qianqian; Zhao, Dehua; Zhang, Linlin Share Save Allelic phenotype prediction of phenylketonuria based on the machine learning methodFang, Yang; Gao, Jinshuang; Guo, Yaqing; Li, Xiaole; Yuan, Enwu; Yuan, Erfeng; Song, Liying; Shi, Qianqian; Yu, Haiyang; Zhao, Dehua; Zhang, Linlin Share Save Identification of phenylketonuria patient genotypes using single-gene full-length sequencingGao, Jinshuang; Li, Xiaole; Guo, Yaqing; Yu, Haiyang; Song, Liying; Fang, Yang; Yuan, Erfeng; Shi, Qianqian; Zhao, Dehua; Yuan, Enwu; Zhang, Linlin Share Save Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsyZhang, Linlin; Gao, Jinshuang; Liu, Hailiang; Tian, Yuan; Zhang, Xiaoli; Lei, Wei; Li, Ying; Guo, Yaqing; Yu, Haiyang; Yuan, Erfeng; Liang, Lisi; Cui, Shihong; Zhang, Xiaoan Share Save 
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