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Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations

PURPOSE: To identify the missing heritability of ABCA4-related retinopathy in a Chinese cohort. METHODS: We recruited 33 unrelated patients with ABCA4-related retinopathy carrying a monoallelic variant in ABCA4. All patients underwent ophthalmic examinations. Next-generation sequencing of the whole...

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Detalles Bibliográficos
Autores principales:	Tian, Lu, Chen, Chunjie, Song, Yuning, Zhang, Xiaohui, Xu, Ke, Xie, Yue, Jin, Zi-Bing, Li, Yang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9185996/ https://www.ncbi.nlm.nih.gov/pubmed/35657619 http://dx.doi.org/10.1167/iovs.63.6.5

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