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Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation

Inherited retinal dystrophies (IRDs) affect 1 in 3000 individuals worldwide and are genetically heterogeneous, with over 270 identified genes and loci; however, there are still many identified disorders with no current genetic etiology. Whole exome sequencing (WES) provides a hypothesis-free first e...

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Detalles Bibliográficos
Autores principales:	Doucette, Lance P., Noel, Nicole C. L., Zhai, Yi, Xu, Manlong, Caluseriu, Oana, Hoang, Stephanie C., Radziwon, Alina J., MacDonald, Ian M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385108/ https://www.ncbi.nlm.nih.gov/pubmed/33776059 http://dx.doi.org/10.1038/s41431-021-00872-3

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