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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation

Photoreceptor cells (PRCs) are the light-detecting cells of the retina. Such cells can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we present the largest genome-wide association study of PRC morpho...

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Detalles Bibliográficos
Autores principales: Currant, Hannah, Fitzgerald, Tomas W., Patel, Praveen J., Khawaja, Anthony P., Webster, Andrew R., Mahroo, Omar A., Birney, Ewan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9997913/
https://www.ncbi.nlm.nih.gov/pubmed/36848389
http://dx.doi.org/10.1371/journal.pgen.1010587