Multiplexed Functional Assessment of Genetic Variants in CARD11
Author:
Funder
National Institute of Allergy and Infectious Diseases
National Cancer Institute
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference49 articles.
1. Analysis of protein-coding genetic variation in 60,706 humans;Lek;Nature,2016
2. ClinVar: public archive of relationships among sequence variation and human phenotype;Landrum;Nucleic Acids Res.,2014
3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015
4. The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex;Lu;Front. Immunol.,2018
5. Germline hypomorphic CARD11 mutations in severe atopic disease;Ma;Nat. Genet.,2017
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