Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L348V
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NOD2

NM_001370466.1:p.L348V

Associated Papers

NOD2 in Crohn's Disease-Unfinished Business.

Ashton JJ et al.

Journal of Crohn's & Colitis, 2023

Structural localization of pathogenic mutations in the central nucleotide-binding domain (NBD) of nucleotide-binding oligomerization domain-2 (NOD2) protein and their inference in inflammatory disorders.

P R et al.

Nucleosides, Nucleotides & Nucleic Acids, 2021

Crystal structure of NOD2 and its implications in human disease.

Maekawa S et al.

Nature Communications, 2016

27283905 (PubMed )
Supplement: ncomms11813-s1.pdf

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

Lesage S et al.

American Journal of Human Genetics, 2002

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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."