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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...
Autores principales: | Haque, Neshatul, Kawai, Tomoki, Ratnasinghe, Brian D., Wagenknecht, Jessica B., Urrutia, Raul, Notarangelo, Luigi D., Zimmermann, Michael T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
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 |
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