Genetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits

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dc.contributor.authorGecz, J.
dc.contributor.authorBhattacharjee, R.
dc.contributor.authorPalmer, E.
dc.contributor.authorGardner, A.
dc.contributor.authorCarroll, R.
dc.contributor.authorWee, I.C.
dc.contributor.authorMazurkiewicz, D.
dc.contributor.authorPerez-Jurado, L.
dc.contributor.authorRitchie, T.
dc.contributor.authorCorbett, M.
dc.contributor.authorVan Eyk, C.
dc.contributor.authorPiltz, S.
dc.contributor.authorWhite, M.
dc.contributor.authorCollins-Praino, L.
dc.contributor.authorJolly, L.
dc.contributor.authorThomas, P.
dc.contributor.authorField, M.
dc.contributor.authorKumar, R.
dc.contributor.conference57th European Society of Human Genetics Conference (ESHG) (1 Jun 2024 - 4 Jun 2024 : Berlin, Germany)
dc.date.issued2024
dc.descriptionHybrid Poster - P20.034.C
dc.description.abstractAbstract not available
dc.description.statementofresponsibilityJozef Gecz, Rudrarup Bhattacharjee, Elizabeth Palmer, Alison Gardner, Renee Carroll, Ing Chee Wee, Danielle Mazurkiewicz, Luis Pérez-Jurado, Tarin Ritchie, Mark Corbett, Clare van Eyk, Sandra Piltz, Melissa White, Lyndsey Collins-Praino, Lachlan Jolly, Paul Thomas, Mike Field, Raman Kumar
dc.identifier.citationEuropean Journal of Human Genetics, 2024, vol.32, iss.Suppl. 2, pp.1755-1755
dc.identifier.doi10.1038/s41431-024-01734-4
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.orcidBhattacharjee, R. [0000-0003-2740-6986]
dc.identifier.orcidRitchie, T. [0000-0003-2951-6820]
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]
dc.identifier.orcidVan Eyk, C. [0000-0003-0345-9944]
dc.identifier.orcidCollins-Praino, L. [0000-0002-4380-7600]
dc.identifier.orcidJolly, L. [0000-0003-4538-2658]
dc.identifier.orcidKumar, R. [0000-0001-7976-8386]
dc.identifier.urihttps://hdl.handle.net/2440/144212
dc.language.isoen
dc.publisherSpringer Nature
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1163240
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1099163
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/2004331
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/2016199
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/2010736
dc.rights© The Author(s), under exclusive licence to European Society of Human Genetics 2024
dc.source.urihttps://www.nature.com/collections/bajgjfeiid
dc.subjectneurodevelopmental disability; functional genomics; DNA damage
dc.titleGenetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits
dc.typeConference item
pubs.publication-statusPublished

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