RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation

Interpreting genetic changes observed in individual patients is a critical challenge. The array of immune deficiency syndromes is typically caused by genetic variation unique to individuals. Therefore, new approaches are needed to interpret functional variation and accelerate genomics interpretation...

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Detalles Bibliográficos
Autores principales: Haque, Neshatul, Kawai, Tomoki, Ratnasinghe, Brian D., Wagenknecht, Jessica B., Urrutia, Raul, Notarangelo, Luigi D., Zimmermann, Michael T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579426/
https://www.ncbi.nlm.nih.gov/pubmed/37854700
http://dx.doi.org/10.1016/j.isci.2023.108040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10579426/
https://www.ncbi.nlm.nih.gov/pubmed/37854700
http://dx.doi.org/10.1016/j.isci.2023.108040

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