Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.E306D
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NLRP3

NM_004895.5:p.E306D

Associated Papers

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.

Feng S et al.

Nature Immunology, 2025

39930093 (PubMed )
Supplement: 41590_2025_2088_MOESM3_ESM.xlsx › Table_1

Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn.

Xie M et al.

Frontiers in Immunology, 2023

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature.

Zhou Y et al.

Orphanet Journal of Rare Diseases, 2022

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