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Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population

Retinitis pigmentosa 77 is caused by mutations of REEP6 (MIM: 609346), which encodes a protein for the development of photoreceptors. Our study was to identify disease-causing variants in three Chinese families using targeted next-generation sequencing (NGS). Multiple lines of computational predicti...

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Detalles Bibliográficos
Autores principales:	Zhang, Lujia, Li, Ya, Qin, Litao, Wu, Yu, Lei, Bo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068040/ https://www.ncbi.nlm.nih.gov/pubmed/33917198 http://dx.doi.org/10.3390/genes12040537

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