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Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing

OBJECTIVE: Retinitis pigmentosa is an inherited degenerative disorder causing severe retinal dystrophy and visual impairment, mainly with onset in the first or second decades. The next-generation sequencing has become an efficient tool to identify disease-causing mutations in retinitis pigmentosa. T...

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Detalles Bibliográficos
Autores principales:	Kocaaga, Ayca, Aköz, İrem Öztürk, Demir, Nihal Ulus, Paksoy, Bariş
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Associação Médica Brasileira 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204840/ https://www.ncbi.nlm.nih.gov/pubmed/37222315 http://dx.doi.org/10.1590/1806-9282.20221073

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