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Panel‐based genetic testing for inherited retinal disease screening 176 genes

BACKGROUND: This case series reports the performance of a next‐generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD). METHODS: Subjects are patients who underwent genetic testing between 1 August 2016 and 1 January 2018 at Moorfields Eye Ho...

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Detalles Bibliográficos
Autores principales:	Sheck, Leo H. N., Esposti, Simona D., Mahroo, Omar A., Arno, Gavin, Pontikos, Nikolas, Wright, Genevieve, Webster, Andrew R., Khan, Kamron N., Michaelides, Michel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683638/ https://www.ncbi.nlm.nih.gov/pubmed/33749171 http://dx.doi.org/10.1002/mgg3.1663

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