Whole exome sequencing of known eye genes reveals genetic causes for high myopia

High myopia [refractive error ≤ −6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European...

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Detalles Bibliográficos
Autores principales: Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9523556/
https://www.ncbi.nlm.nih.gov/pubmed/35567543
http://dx.doi.org/10.1093/hmg/ddac113

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