PhenX Measures for Phenotyping Rare Genetic Conditions

INTRODUCTION: The PhenX Toolkit, an online resource of well-established measures of phenotypes and exposures, now has 16 new measures recommended for assessing rare genetic conditions. MATERIALS AND METHODS: These measures and their protocols were selected by a working group of domain experts with i...

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Vydáno v:Genet Med
Hlavní autoři: Phillips, Michael, Grant, Tracey, Giampietro, Philip, Bodurtha, Joann, Valdez, Rodolfo, Maiese, Deborah R., Hendershot, Tabitha, Terry, Sharon F., Hamilton, Carol M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5507752/
https://ncbi.nlm.nih.gov/pubmed/28079902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.199
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