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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7820631/
https://ncbi.nlm.nih.gov/pubmed/33202260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.10.015
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