Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
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Published:2021-06
Issue:6
Volume:108
Page:1069-1082
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Hengel HolgerORCID, Hannan Shabab B., Dyack Sarah, MacKay Sara B., Schatz Ulrich, Fleger Martin, Kurringer Andreas, Balousha Ghassan, Ghanim Zaid, Alkuraya Fowzan S., Alzaidan Hamad, Alsaif Hessa S., Mitani Tadahiro, Bozdogan Sevcan, Pehlivan Davut, Lupski James R., Gleeson Joseph J., Dehghani Mohammadreza, Mehrjardi Mohammad Y.V., Sherr Elliott H., Parks Kendall C., Argilli Emanuela, Begtrup Amber, Galehdari Hamid, Balousha Osama, Shariati Gholamreza, Mazaheri Neda, Malamiri Reza A., Pagnamenta Alistair T., Kingston Helen, Banka Siddharth, Jackson Adam, Osmond Mathew, Rieß Angelika, Haack Tobias B., Nägele Thomas, Schuster Stefanie, Hauser Stefan, Admard Jakob, Casadei Nicolas, Velic Ana, Macek Boris, Ossowski Stephan, Houlden Henry, Maroofian Reza, Schöls Ludger
Funder
NHGRI NINDS NIHR Ontario Genomics Institute European Commission DFG Wellcome Trust
Subject
Genetics(clinical),Genetics
Cited by
9 articles.
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