Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
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Published:2021-10
Issue:10
Volume:23
Page:1901-1911
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Thomas QuentinORCID, Gautier Thierry, Marafi Dana, Besnard Thomas, Willems Marjolaine, Moutton Sébastien, Isidor Bertand, Cogné Benjamin, Conrad Solène, Tenconi Romano, Iascone Maria, Sorlin Arthur, Masurel Alice, Dabir Tabib, Jackson Adam, Banka Siddharth, Delanne Julian, Lupski James R., Saadi Nebal Waill, Alkuraya Fowzan S., Zahrani Fatema Al, Agrawal Pankaj B., England Eleina, Madden Jill A., Posey Jennifer E., Burglen Lydie, Rodriguez Diana, Chevarin Martin, Nguyen Sylvie, Mau-Them Frédéric Tran, Duffourd Yannis, Garret Philippine, Bruel Ange-Line, Callier Patrick, Marle Nathalie, Denomme-Pichon Anne-Sophie, Duplomb Laurence, Philippe Christophe, Thauvin-Robinet Christel, Govin Jérôme, Faivre Laurence, Vitobello Antonio
Subject
Genetics (clinical)
Cited by
7 articles.
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