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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

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dc.contributor.authorAlmousa, Hashem
dc.contributor.authorLewis, Sara A.
dc.contributor.authorBakhtiari, Somayeh
dc.contributor.authorNordlie, Sandra Hinz
dc.contributor.authorPagnozzi, Alex
dc.contributor.authorMagee, Helen
dc.contributor.authorEfthymiou, Stephanie
dc.contributor.authorHeim, Jennifer
dc.contributor.authorCornejo, Patricia
dc.contributor.authorZaki, Maha
dc.contributor.authorNeilson, Derek E.
dc.contributor.authorVemuri, Anusha
dc.contributor.authorJin, Sheng Chih
dc.contributor.authorYang, Xiao-Ru
dc.contributor.authorHeidari, Abolfazl
dc.contributor.authorvan Gassen, Koen L. I.
dc.contributor.authorTrimouille, Aurelien
dc.contributor.authorThauvin-Robinet, Christel
dc.contributor.authorLiu, James
dc.contributor.authorBruel, Ange-Line
dc.contributor.authorHashem, Mais Omar
dc.contributor.authorKarimiani, Ehsan Ghayoor
dc.contributor.authorSayin, Gozde Yesil
dc.contributor.authorLingappa, Lokesh
dc.contributor.authorBaruah, Debangana
dc.contributor.authorVan Gils, Julien
dc.contributor.authorFaivre, Laurence
dc.contributor.authorZamani, Mina
dc.contributor.authorGalehdari, Hamid
dc.contributor.authorMohammad, Rahema
dc.contributor.authorvan der Smagt, Jasper
dc.contributor.authorQari, Alya
dc.contributor.authorVincent, John B.
dc.contributor.authorInnes, A. Micheil
dc.contributor.authorDursun, Ali
dc.contributor.authorOzgul, R. Koksal
dc.contributor.authorAkar, Halil Tuna
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorMignot, Cyril
dc.contributor.authorKeren, Boris
dc.contributor.authorRavelli, Claudia
dc.contributor.authorBurglen, Lydie
dc.contributor.authorAfenjar, Alexandra
dc.contributor.authorKaat, Laura Donker
dc.contributor.authorAlkuraya, Fowzan
dc.contributor.authorHoulden, Henry
dc.contributor.authorPadilla-Lopez, Segio
dc.contributor.authorMaroofian, Reza
dc.contributor.authorSacher, Michael
dc.contributor.authorKruer, Michael C.
dc.date.accessioned2026-11-05T11:08:32Z
dc.date.issued2024
dc.description.pages1484-1485
dc.description.sponsorshipSupported by the Cerebral Palsy Alliance Research Foundation and the US National Institute of Neurological Disorders and Stroke.
dc.description.volume32
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/11547
dc.identifier.wosWOS:001421430502334
dc.language.isoen
dc.publisherSPRINGERNATURE
dc.relation.conference57th Conference of the European-Society-of-Human-Genetics (ESHG)
dc.relation.fundingCerebral Palsy Alliance Research Foundation
dc.relation.fundingUS National Institute of Neurological Disorders and Stroke(United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS))
dc.relation.fundingUS National Institute of Neurological Disorders and Stroke
dc.relation.ispartofEUROPEAN JOURNAL OF HUMAN GENETICS
dc.subjectBiochemistry & Molecular Biology
dc.subjectGenetics & Heredity
dc.titleTRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
dc.typeMeeting Abstract
oaire.citation.editionScience Citation Index Expanded (SCI-EXPANDED)
oaire.citation.editionConference Proceedings Citation Index - Science (CPCI-S)
oaire.citation.endPage1485
oaire.citation.startPage1484
oaire.citation.volume32
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