Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in ge...

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Detalles Bibliográficos
Autores principales: Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke J, Verhoeven, Virginie JM, Pott, Jan WR, Sallevelt, Suzanne CEH, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans PM, Hoefsloot, Lies, Yntema, Helger G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437915/
https://www.ncbi.nlm.nih.gov/pubmed/28224992
http://dx.doi.org/10.1038/ejhg.2017.9

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