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GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
scientific article
Author/s
author: Jeremy Schwartzentruber, Jacek Majewski, Oana Caluseriu, A. Micheil Innes, Jillian S Parboosingh, François P. Bernier
Work details
Publication date
July 14, 2015
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Language
English
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