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A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation sequencing. To confirm the pathogenicity of t...

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Detalles Bibliográficos
Autores principales:	Fan, Lihong, Ji, Longfei, Xu, Yuqing, Shen, Guosong, Tang, Kefeng, Li, Zhi, Ye, Sisi, Shen, Xueping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174977/ https://www.ncbi.nlm.nih.gov/pubmed/35692839 http://dx.doi.org/10.3389/fgene.2022.827560

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