Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.I346S
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NLRP3

NM_001243133.2:p.I346S

Associated Papers

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies.

Porfireva ES et al.

Frontiers in Immunology, 2025

Identification of a de novo NLRP3 gene variation in an Italian Behçet syndrome patient.

Padula MC et al.

International Journal of Immunogenetics, 2019

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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."