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Article

PhenX measures for phenotyping rare genetic conditions.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2017

Phillips Michael, Grant Tracey, Giampietro Philip, Bodurtha Joann, Valdez Rodolfo, Maiese Deborah R, Hendershot Tabitha, Terry Sharon F, Hamilton Carol M

Abstract excerpt

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 input from the scientific community. RESULTS: The measures, which cover life stages from birth through adulthood,...

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PMID: 28079902
DOI: 10.1038/gim.2016.199
PMCID: PMC5507752

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