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Phenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings

The purpose of this study was to detect the missing heritability of patients with KIF11-related retinopathy and to describe their clinical and genetic characteristics. We enrolled 10 individuals from 7 unrelated families harboring a pathogenic monoallelic variant in KIF11. All subjects underwent oph...

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Detalles Bibliográficos
Autores principales:	Chang, Haoyu, Zhang, Xin, Xu, Ke, Li, Nien, Xie, Yue, Yan, Weiyu, Li, Yang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858922/ https://www.ncbi.nlm.nih.gov/pubmed/36672954 http://dx.doi.org/10.3390/genes14010212

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