Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.N382K
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NOD2

NM_001370466.1:p.N382K

Associated Papers

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome.

Punzi L et al.

Best Practice & Research. Clinical Rheumatology, 2011

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

Okafuji I et al.

Arthritis and Rheumatism, 2009

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

Kanazawa N et al.

Blood, 2005

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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."