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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases

PURPOSE: The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs). METHODS: To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospec...

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Detalles Bibliográficos
Autores principales:	Li, Wei, He, Xiang-Dong, Yang, Zheng-Tao, Han, Dong-Ming, Sun, Yan, Chen, Yan-Xian, Han, Xiao-Tong, Guo, Si-Cheng, Ma, Yu-Ting, Jin, Xin, Yang, Huan-Ming, Gao, Ya, Wang, Zhuo-Shi, Li, Jian-Kang, He, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907368/ https://www.ncbi.nlm.nih.gov/pubmed/36729443 http://dx.doi.org/10.1167/iovs.64.2.5

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