Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.T605N
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NOD2

NM_022162.3:p.T605N

Associated Papers

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, clinical and genetic aspects.

Sfriso P et al.

Autoimmunity Reviews, 2012

NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.

Xiang H et al.

Molecular Vision, 2012

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."