Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.R311W
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NOD2

NM_022162.3:p.R311W

Associated Papers

Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.

Williamson KA et al.

Frontiers in Immunology, 2024

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

Chang SY et al.

Pediatric Rheumatology Online Journal, 2022

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.

Horowitz JE et al.

Scientific Reports, 2021

33692434 (PubMed )
Supplement: 41598_2021_84938_MOESM2_ESM.xlsx › Table_S3

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.

Milman N et al.

The Clinical Respiratory Journal, 2007

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.

Hugot JP et al.

Nature, 2001

Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea.

Tronstad RR et al.

Scandinavian Journal of Gastroenterology, 0

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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."