Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia

Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potent...

Descripción completa

Detalles Bibliográficos
Autores principales: Guggenheim, Jeremy A, Clark, Rosie, Cui, Jiangtian, Terry, Louise, Patasova, Karina, Haarman, Annechien E G, Musolf, Anthony M, Verhoeven, Virginie J M, Klaver, Caroline C W, Bailey-Wilson, Joan E, Hysi, Pirro G, Williams, Cathy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Association Studies Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169456/
https://www.ncbi.nlm.nih.gov/pubmed/35022715
http://dx.doi.org/10.1093/hmg/ddac004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169456/
https://www.ncbi.nlm.nih.gov/pubmed/35022715
http://dx.doi.org/10.1093/hmg/ddac004

Ejemplares similares