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Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at the University of Minnesota (UMN)/M Health System who had genetic testing via next generation sequencing. A database was curated to record history and examination, genetic findings, and ocular imaging. Ca...

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Detalles Bibliográficos
Autores principales: Sather, Richard, Ihinger, Jacie, Simmons, Michael, Khundkar, Tahsin, Lobo, Glenn P., Montezuma, Sandra R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341662/
https://www.ncbi.nlm.nih.gov/pubmed/37446072
http://dx.doi.org/10.3390/ijms241310895