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Updated: Apr 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Timely diagnosis of Wilson's disease using whole exome sequencing
Sergio A Rodríguez-Quiroga1, Julieta Rosales1, Tomoko Arakaki2
1Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, Argentina; Área de Trastornos del Movimiento, Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, Argentina.
No abstract available in PubMed .
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