Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.R260R
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NLRP3

NM_001243133.2:p.R260R

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Case of cryopyrin-associated periodic syndrome who recovered from growth delay by treatment with canakinumab.

Yu Y et al.

The Journal of Dermatology, 2021

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."