Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.S404L
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NOD2

NM_001370466.1:p.S404L

Associated Papers

The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.

Kars ME et al.

Genome Medicine, 2024

38741190 (PubMed )
Supplement: 13073_2024_1335_MOESM2_ESM.xlsx › TableS16

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Atschekzei F et al.

Rmd Open, 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

Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability.

Chen JS et al.

G3 (bethesda, Md.), 2018

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

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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."