A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

ConclusionOur study reveals the pathogenesis of a novelCOL1A1 splicing pathogenic variant c.3814+1G>T in a Chinese family with OI I.

Source: Molecular Genetics & Genomic Medicine - June 24, 2020 Category: Genetics & Stem Cells Authors: Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong ‐An Zhou, Bin Zhao Tags: ORIGINAL ARTICLE Source Type: research