Novel compound heterozygous pathogenic variants in <i>ASCC1</i> in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship
Weiliang Lu(Obstetrics and Gynecology Hospital of Fudan University), Yiping Shen(Zhejiang Chinese Medical University), Yingchi Lu(Guangxi Maternal and Child Health Hospital), Zailong Qin(Guangxi Maternal and Child Health Hospital), Limei Huang(Guangxi Maternal and Child Health Hospital), Jingsi Luo(Guangxi Maternal and Child Health Hospital), Jin Wang(Soochow University), Lingxiao Li(Southwest Medical University), Jiasun Su(Guangxi Maternal and Child Health Hospital), Shujie Zhang(Northeast Normal University), Shang Yi(Guangxi Maternal and Child Health Hospital), Xiaoyan Gao(First Affiliated Hospital of Jinan University), Haiyang Zheng(Guangxi Medical University), Ming‐Xing Liang(Jiangsu Province Hospital), Bobo Xie(Guangxi Maternal and Child Health Hospital), Sheng Yi(University of Pittsburgh)
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