Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.M513T
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NOD2

NM_022162.3:p.M513T

Associated Papers

Case Report: Blau Syndrome With Thrombocytopenia.

Pan D et al.

International Journal of Rheumatic Diseases, 2025

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review.

Yao F et al.

Frontiers in Pediatrics, 2023

Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.

Córdova-Fletes C et al.

Autoimmunity, 2020

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

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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."