Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.D382E
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NOD2

NM_022162.3:p.D382E

Associated Papers

Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.

Mao L et al.

Frontiers in Immunology, 2022

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.

Caso F et al.

Rmd Open, 2015

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.

Parkhouse R et al.

Febs Letters, 2014

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

A new CARD15 mutation in Blau syndrome.

van Duist MM et al.

European Journal of Human Genetics : Ejhg, 2005

A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members.

Milman N et al.

Scandinavian Journal of Rheumatology, 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."