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Novel compound heterozygous variants in GPT2 in a family with microcephaly and intellectual disability

dc.contributor.authorCelebiler, H. Kaymakcalan
dc.contributor.authorErcan-Sencicek, A.
dc.contributor.authorMeral, C.
dc.contributor.authorGoc, N.
dc.contributor.authorToy, F.
dc.contributor.authorYarman, Y.
dc.contributor.authorGunel, M.
dc.date.accessioned2020-12-02T18:01:56Z
dc.date.available2020-12-02T18:01:56Z
dc.date.issued2018
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.urihttp://hdl.handle.net/11446/3766
dc.description50th European-Society-of-Human-Genetics (ESHG) Conference -- MAY 27-30, 2017 -- Copenhagen, DENMARKen_US
dc.descriptionWOS: 000489312603024en_US
dc.description.abstract[No abstract available]en_US
dc.description.sponsorshipEuropean Soc Human Geneten_US
dc.description.sponsorshipYale University Mendelian Researchen_US
dc.description.sponsorshipYale University Mendelian Researchen_US
dc.language.isoengen_US
dc.publisherNature Publishing Groupen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleNovel compound heterozygous variants in GPT2 in a family with microcephaly and intellectual disabilityen_US
dc.typeconferenceObjecten_US
dc.relation.journalEuropean Journal of Human Geneticsen_US
dc.departmentDBÜen_US
dc.identifier.volume26en_US
dc.identifier.startpage335en_US
dc.identifier.endpage336en_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.department-tempIstanbul Bilim Univ, Istanbul, Turkey; [Ercan-Sencicek, A.; Goc, N.; Toy, F.; Yarman, Y.; Gunel, M.] Yale Univ, New Haven, CT USA; [Meral, C.] Sultan Abdulhamit Han EAH, Istanbul, Turkeyen_US


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