Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.R459R
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NOD2

NM_022162.3:p.R459R

Associated Papers

Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD.

Hu S et al.

Gut, 2021

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

NOD2 genetic variants and sarcoidosis-associated uveitis.

Davoudi S et al.

American Journal of Ophthalmology Case Reports, 2016

Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

Girardelli M et al.

International Journal of Molecular Sciences, 2014

Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.

Lappalainen M et al.

Inflammatory Bowel Diseases, 2008

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

Blau syndrome with a rare mutation in exon 9 of NOD2 gene.

Velickovic J et al.

Autoimmunity, 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."