Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.P268S
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NOD2

NM_022162.3:p.P268S

Associated Papers

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

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

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.

Parackova Z et al.

Journal of Clinical Immunology, 2020

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Burillo-Sanz S et al.

Scientific Reports, 2017

NOD2 genetic variants and sarcoidosis-associated uveitis.

Davoudi S et al.

American Journal of Ophthalmology Case Reports, 2016

Somatic NOD2 mosaicism in Blau syndrome.

de Inocencio J et al.

The Journal of Allergy and Clinical Immunology, 2015

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

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

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

Velickovic J et al.

Autoimmunity, 0

Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease.

Siddique I et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 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."