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Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

INTRODUCTION: Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by molecular genetic testing is the first step tow...

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Detalles Bibliográficos
Autores principales:	Nguyen, Quang, Woof, William, Kabiri, Nathaniel, Sen, Sagnik, Daich Varela, Malena, Cabral De Guimaraes, Thales Antonio, Shah, Mital, Sumodhee, Dayyanah, Moghul, Ismail, Al-Khuzaei, Saoud, Liu, Yichen, Hollyhead, Catherine, Tailor, Bhavna, Lobo, Loy, Veal, Carl, Archer, Stephen, Furman, Jennifer, Arno, Gavin, Gomes, Manuel, Fujinami, Kaoru, Madhusudhan, Savita, Mahroo, Omar A, Webster, Andrew R, Balaskas, Konstantinos, Downes, Susan M, Michaelides, Michel, Pontikos, Nikolas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Ophthalmology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030964/ https://www.ncbi.nlm.nih.gov/pubmed/36940949 http://dx.doi.org/10.1136/bmjopen-2022-071043

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