360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits

OBJECTIVES/GOALS: Assess the diagnostic yield and test utilization of WES in patients having complex traits. We aim to evaluate the use of the first genetic approach for the identification of primary variants that contribute to neurogenetic disease etiology and influence onset and progression in Pue...

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Detalles Bibliográficos
Autores principales: Albino, Elinette, Carlo, Simon, Chapel-Crespo, Cristel, Santiago-Cornier, Alberto, Buxo, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2022
Materias:
Valued Approaches
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209071/
http://dx.doi.org/10.1017/cts.2022.204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209071/
http://dx.doi.org/10.1017/cts.2022.204

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