Multiplexed Functional Assessment of Genetic Variants in CARD11.

doi:10.1016/j.ajhg.2020.10.015

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Article

Multiplexed Functional Assessment of Genetic Variants in CARD11.

American journal of human genetics - 3 Dec 2020

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

Abstract excerpt

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 immunodeficiencies. Here, we used a "cloning-free" saturation genome editing approach in a diploid cell line to simultaneously...

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Identifiers

PMID: 33202260
DOI: 10.1016/j.ajhg.2020.10.015
PMCID: PMC7820631

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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