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Novel WDR45 frameshift variant detected by whole exome sequencing in beta-propeller protein-associated neurodegeneration disease

dc.contributor.authorYALÇIN ÇAKMAKLI, GÜL
dc.contributor.authorYapici, Zuhal
dc.contributor.authorIseri, Sibel Ugur
dc.contributor.authorSusgun, Seda
dc.contributor.authorDEMİREL, MERT
dc.contributor.authorELİBOL, BÜLENT
dc.date.accessioned2022-07-04T16:51:04Z
dc.date.available2022-07-04T16:51:04Z
dc.date.issued2022
dc.identifier.citationSusgun S., DEMİREL M., YALÇIN ÇAKMAKLI G., ELİBOL B., Iseri S. U. , Yapici Z., "Novel WDR45 frameshift variant detected by whole exome sequencing in beta-propeller protein-associated neurodegeneration disease", EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.30, sa.SUPPL 1, ss.304-305, 2022
dc.identifier.issn1018-4813
dc.identifier.othervv_1032021
dc.identifier.otherav_fd85ddf3-8f6b-4861-a89a-637a45646492
dc.identifier.urihttp://hdl.handle.net/20.500.12627/185497
dc.language.isoeng
dc.subjectMolecular Biology
dc.subjectDrug Discovery
dc.subjectAging
dc.subjectGeneral Biochemistry, Genetics and Molecular Biology
dc.subjectBiochemistry
dc.subjectStructural Biology
dc.subjectGenetics (clinical)
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE HAYAT
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectBiochemistry, Genetics and Molecular Biology (miscellaneous)
dc.subjectGenetics
dc.subjectClinical Biochemistry
dc.subjectCancer Research
dc.titleNovel WDR45 frameshift variant detected by whole exome sequencing in beta-propeller protein-associated neurodegeneration disease
dc.typeMakale
dc.relation.journalEUROPEAN JOURNAL OF HUMAN GENETICS
dc.contributor.departmentİstanbul Teknik Üniversitesi , ,
dc.identifier.volume30
dc.identifier.issueSUPPL 1
dc.identifier.startpage304
dc.identifier.endpage305
dc.contributor.firstauthorID3416914


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