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Permanent URI for this collectionhttps://hdl.handle.net/11443/932
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Item COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA(ISTANBUL UNIV, FAC MEDICINE, PUBL OFF, 2021-01-01) Salman, Baris; Yucesan, Emrah; Samanci, Bedia; Bilgic, Basar; Hanagasi, Hasmet; Gurvit, Ibrahim; Ozbek, Ugur; Ugur Iseri, SibelObjective: To explore the underlying genetic variations and mechanisms in a family affected by isolated dystonia. Material and Method: We employed whole genome Single Nu-cleotide Polymorphism (SNP) based linkage analysis along with whole exome sequencing (WES) in a consanguineous family pre -senting with isolated dystonia. An in-house pipeline compiled for WES analysis along with in-depth in silico prediction algo-rithms were used to assess the associated data produced in this study. Sanger sequencing was used for variant confirmation and segregation. Results: Data analysis included locus oriented WES variant prior-itization and cryptic splicing predictions. We detected a homo-zygous and synonymous variation rs748449895 (NM\_015125.4: c.4143C>T