Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant

(1) Background: Mutations in NFκB1, a transcriptional regulator of immunomodulating proteins, are a known cause of inborn errors of immunity. Our proband is a 22-year-old male with a diagnosis of common variable immunodeficiency (CVID), cytopenias with massive splenomegaly, and nodular regenerative...

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Detalles Bibliográficos
Autores principales: Chaudhri, Eman N., Abbott, Jessica M., Islam, Naeyma N., Weber, Caleb A., Coban, Mathew A., Bilgili, Ahmet, Squire, Jacqueline D., Mantia, Sarah, Wierenga, Klaas J., Caulfield, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606260/
https://www.ncbi.nlm.nih.gov/pubmed/37895204
http://dx.doi.org/10.3390/genes14101855

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606260/
https://www.ncbi.nlm.nih.gov/pubmed/37895204
http://dx.doi.org/10.3390/genes14101855

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