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Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of individuals with hereditary retinal disorders. It is a r...

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Detalles Bibliográficos
Autores principales:	Ganapathi, Mythily, Thomas-Wilson, Amanda, Buchovecky, Christie, Dharmadhikari, Avinash, Barua, Subit, Lee, Winston, Ruan, Merry Z. C., Soucy, Megan, Ragi, Sara, Tanaka, Joy, Clark, Lorraine N., Naini, Ali B., Liao, Jun, Mansukhani, Mahesh, Tsang, Stephen, Jobanputra, Vaidehi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174483/ https://www.ncbi.nlm.nih.gov/pubmed/35672425 http://dx.doi.org/10.1038/s41598-022-13026-2

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