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Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2. It has been well established to identify the classical variants as well as consensus splicing-site-variants in these genes in our previo...

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Detalles Bibliográficos
Autores principales:	Li, Lulu, Cao, Yixuan, Zhao, Feiyue, Mao, Bin, Ren, Xiuzhi, Wang, Yanzhou, Guan, Yun, You, Yi, Li, Shan, Yang, Tao, Zhao, Xiuli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6832110/ https://www.ncbi.nlm.nih.gov/pubmed/31737030 http://dx.doi.org/10.3389/fgene.2019.00979

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