A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report

por Peng, Yu, Wang, Tun, Zheng, Yu, Lian, Aojie, Zhang, Di, Xiong, Zhimin, Hu, Zhengmao, Xia, Kun, Shu, Chang
Publicado 2019

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

por Pagel, Kymberleigh A., Antaki, Danny, Lian, AoJie, Mort, Matthew, Cooper, David N., Sebat, Jonathan, Iakoucheva, Lilia M., Mooney, Sean D., Radivojac, Predrag
Publicado 2019

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

por Zhang, Xi, Xiao, Neng, Cao, Yang, Peng, Ying, Lian, Aojie, Chen, Yuanlu, Wang, Pengchao, Gu, Weiyue, Xiao, Bo, Yu, Jing, Wang, Hua, Shu, Li
Publicado 2023