Varaico: Literature-Extracted Genetic Variants

Gene:IRF1
Variant:p.P185P
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IRF1

NM_002198.3:p.P185P

Associated Papers

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Chiereghin C et al.

Frontiers in Genetics, 2021

33643381 (PubMed )
Supplement: Table_2.XLSX › linkage_region_variants

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

Visschedijk MC et al.

Plos One, 2016

27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I

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

Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31.

Onnie C et al.

Genes and Immunity, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."