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Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation seq...

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Detalles Bibliográficos
Autores principales:	Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477371/ https://www.ncbi.nlm.nih.gov/pubmed/28378818 http://dx.doi.org/10.1038/ejhg.2017.44

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