A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
Yaxin HanDongming WangJinli GuoQiuhong XiongPing LiYong-An ZhouBin ZhaoPublished in: Molecular genetics & genomic medicine (2020)
Our study reveals the pathogenesis of a novel COL1A1 splicing pathogenic variant c.3814+1G>T in a Chinese family with OI I.
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