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Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions

With the rapid increase in publicly available sequencing data, healthcare professionals are tasked with understanding how genetic variation informs diagnosis and affects patient health outcomes. Understanding the impact of a genetic variant in disease could be used to predict susceptibility/protecti...

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Detalles Bibliográficos
Autores principales: Wilhelm, Kevin, Edick, Mathew J., Berry, Susan A., Hartnett, Michael, Brower, Amy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178101/
https://www.ncbi.nlm.nih.gov/pubmed/35692825
http://dx.doi.org/10.3389/fgene.2022.859837