Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.L469F
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NOD2

NM_022162.3:p.L469F

Associated Papers

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.

Baisya R et al.

Clinical Immunology (orlando, Fla.), 2023

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

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome.

Akil I et al.

Pediatric Nephrology (berlin, Germany), 2010

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

Blau syndrome with a rare mutation in exon 9 of NOD2 gene.

Velickovic J et al.

Autoimmunity, 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."