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Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss

Background: Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies characterized by the primary degeneration of rod photoreceptors and the subsequent loss of cone photoreceptors because of cell death. It is caused by different mechanisms, including inflammation, apoptosis,...

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Detalles Bibliográficos
Autores principales:	Huang, Yanxia, Yuan, Lamei, He, Guiyun, Cao, Yanna, Deng, Xiong, Deng, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9974670/ https://www.ncbi.nlm.nih.gov/pubmed/36875754 http://dx.doi.org/10.3389/fcell.2023.1129862

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