Articles with "200 new" as a keyword



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Discovery of over 200 new and expanded genetic conditions using GeneMatcher

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Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24351

Abstract: GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory, has utilized GeneMatcher over the last seven years to successfully facilitate connections between clinicians… read more here.

Keywords: expanded genetic; 200 new; new expanded; genematcher ... See more keywords