Výsledky vyhledávání - "Elif Uz-yıldırım"

Akademický článek

Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses

Autor: Erva Ulusoy, Zeynep Kurt, Elif Uz-yıldırım, Dilek Pirim, Niyazi Kaya

Publikováno v: Düzce Üniversitesi Bilim ve Teknoloji Dergisi, Vol 7, Iss 3, Pp 1931-1946 (2019)

Transmembrane and Coiled-Coil Domains 1 (TMCO1) protein is encoded by TMCO1 gene consists of 7 exons. Previous studies have identified multiple TMCO1 variants in patients with cerebro-facio-thoracic dysplasia (CFTD) and TMCO1 locus was also shown to

Externí odkaz: https://doaj.org/article/9c0a433cf8b2461b894d9f6e25101725

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Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

Autor: Elif Uz Yıldırım, Sebnem Ozemri Sag, Niyazi Kaya, Dilek Pirim, Sehime Gulsun Temel

Publikováno v: International Journal of Biological Macromolecules. 162:1166-1177

Pathogenic variants in the coding regions of the BRCA1/2 lead dysfunctional or nonfunctional BRCA proteins however the contribution of non-coding BRCA1/2 variants to BRCA-related disease risk has not been fully elucidated. Thus, we characterized the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211bf8b809274021514fb803f5753beb
https://doi.org/10.1016/j.ijbiomac.2020.06.222

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