Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.E751K
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NOD2

NM_001370466.1:p.E751K

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

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.

Prieto-Peña D et al.

Frontiers in Immunology, 2024

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

Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.

Tanabe T et al.

The Embo Journal, 2004

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."