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Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases

Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of g...

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Main Authors:	Vianey Ordoñez-Labastida (Author), Luis Montes-Almanza (Author), Froylan García-Martínez (Author), Juan C. Zenteno (Author)
Format:	Book
Published:	Permanyer, 2022-10-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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