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Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a given disease's severity to build screening pane...

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Detalles Bibliográficos
Autores principales:	Lazarin, Gabriel A., Hawthorne, Felicia, Collins, Nicholas S., Platt, Elizabeth A., Evans, Eric A., Haque, Imran S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262393/ https://www.ncbi.nlm.nih.gov/pubmed/25494330 http://dx.doi.org/10.1371/journal.pone.0114391

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