Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)

por Xing, Huan-xia, Li, Peng-bin, Cui, Li-min, Jiang, Jian-ye, Hu, Ning-ning, Zhang, Xiao-bin
Publicado 2021

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

por Cui, Li‐min, Jiang, Jian‐ye, Hu, Ning‐ning, Zou, Hong‐en, Zhao, Bao‐zhen, Han, Cong‐ying, Yang, Kai, Wang, Yi‐peng, Xing, Huan‐xia
Publicado 2022