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Cell Reports Methods|January 11, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variantsHengqiang Zhao, Huakang Du, Sen Zhao, et al.
Cell Death and Differentiation|November 23, 2018
Long noncoding RNA lncAIS downregulation in mesenchymal stem cells is implicated in the pathogenesis of adolescent idiopathic scoliosisQianyu Zhuang, Buqing Ye, Shangyi Hui, et al.
Current Gene Therapy|September 25, 2019
A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral MalformationsNan Wu, Lianlei Wang, Jianhua Hu, et al.
American Journal of Human Genetics|January 22, 2022
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learningZefu Chen, Yu Zheng, Yongxin Yang, et al.
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