Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs

An increasing number of studies emphasize the role of non-coding variants in the development of hereditary diseases. However, the interpretation of such variants in clinical genetic testing still remains a critical challenge due to poor knowledge of their pathogenicity mechanisms. It was previously...

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Detalles Bibliográficos
Autores principales: Filatova, Alexandra, Reveguk, Ivan, Piatkova, Maria, Bessonova, Daria, Kuziakova, Olga, Demakova, Victoria, Romanishin, Alexander, Fishman, Veniamin, Imanmalik, Yerzhan, Chekanov, Nikolay, Skitchenko, Rostislav, Barbitoff, Yury, Kardymon, Olga, Skoblov, Mikhail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943669/
https://www.ncbi.nlm.nih.gov/pubmed/36651276
http://dx.doi.org/10.1093/nar/gkac1247

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