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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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Bibliografski detalji
Izdano u:PLoS One
Glavni autori: Lazarin, Gabriel A., Hawthorne, Felicia, Collins, Nicholas S., Platt, Elizabeth A., Evans, Eric A., Haque, Imran S.
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2014
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4262393/
https://ncbi.nlm.nih.gov/pubmed/25494330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0114391
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