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Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy

PURPOSE: To describe the genetic landscape of BEST1 for a large Chinese cohort with autosomal recessive bestrophinopathy (ARB), identify the missing heritability, and report a common Chinese founder variant. METHODS: We recruited 65 patients from 63 families with a clinical diagnosis of ARB. All pat...

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Detalles Bibliográficos
Autores principales:	Shi, Jie, Tian, Lu, Sun, Tengyang, Zhang, Xiao, Xu, Ke, Xie, Yue, Peng, Xiaoyan, Tang, Xin, Jin, Zi-Bing, Li, Yang
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/PMC10528473/ https://www.ncbi.nlm.nih.gov/pubmed/37747403 http://dx.doi.org/10.1167/iovs.64.12.37

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