Candidate modifier genes for immune function in 22q11.2 deletion syndrome
Author:
Affiliation:
1. Stead Family Department of Pediatrics Iowa City IA USA
2. Iowa State Hygienic Laboratory Coralville IA USA
3. Department of Biochemistry Iowa City IA USA
4. Departments of Biology and Pediatrics University of Iowa Iowa City IA USA
Funder
University of Iowa
National Institutes of Health
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1057
Reference52 articles.
1. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Curr Protoc Hum Genet, Chapter,2013
2. A global reference for human genetic variation
3. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency
4. A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population
5. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
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1. Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach;International Journal of Molecular Sciences;2023-05-05
2. Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome;Genes;2022-06-08
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