Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

BACKGROUND: Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpreting pathogenicity. The extent to which these regions may harbour diagnoses for individuals with ra...

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Detalles Bibliográficos
Autores principales: Martin-Geary, Alexandra C, Blakes, Alexander J M, Dawes, Ruebena, Findlay, Scott D, Lord, Jenny, Walker, Susan, Talbot-Martin, Jonathan, Wieder, Nechama, D’Souza, Elston N, Fernandes, Maria, Hilton, Sarah, Lahiri, Nayana, Campbell, Christopher, Jenkinson, Sarah, DeGoede, Christian G E L, Anderson, Emily R, Burge, Christopher B., Sanders, Stephan J, Ellingford, Jamie, Baralle, Diana, Banka, Siddharth, Whiffin, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516070/
https://www.ncbi.nlm.nih.gov/pubmed/37745552
http://dx.doi.org/10.1101/2023.09.12.23295416

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