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Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

PURPOSE: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of the estimated 70% heritability is missing. Here, we investigate the contribution of rare genetic variation because this...

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Detalles Bibliográficos
Autores principales: Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213105/
https://www.ncbi.nlm.nih.gov/pubmed/37250922
http://dx.doi.org/10.1016/j.xops.2023.100303