Associated Papers
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values
The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
Rupar N et al.
Gene, 2024
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
Genetic effect of CCR3 and IL5RA gene polymorphisms on eosinophilia in asthmatic patients.
Lee JH et al.
The Journal of Allergy and Clinical Immunology, 2007
Association analysis of interleukin 5 receptor alpha subunit (IL5RA) polymorphisms and asthma.
Cheong HS et al.
Journal of Human Genetics, 2005
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