Multiplexed Functional Assessment of Genetic Variants in CARD11

Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficienc...

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Detalles Bibliográficos
Autores principales: Meitlis, Iana, Allenspach, Eric J., Bauman, Bradly M., Phan, Isabelle Q., Dabbah, Gina, Schmitt, Erica G., Camp, Nathan D., Torgerson, Troy R., Nickerson, Deborah A., Bamshad, Michael J., Hagin, David, Luthers, Christopher R., Stinson, Jeffrey R., Gray, Jessica, Lundgren, Ingrid, Church, Joseph A., Butte, Manish J., Jordan, Mike B., Aceves, Seema S., Schwartz, Daniella M., Milner, Joshua D., Schuval, Susan, Skoda-Smith, Suzanne, Cooper, Megan A., Starita, Lea M., Rawlings, David J., Snow, Andrew L., James, Richard G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820631/
https://www.ncbi.nlm.nih.gov/pubmed/33202260
http://dx.doi.org/10.1016/j.ajhg.2020.10.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820631/
https://www.ncbi.nlm.nih.gov/pubmed/33202260
http://dx.doi.org/10.1016/j.ajhg.2020.10.015

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