Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.S624R
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NLRP3

NM_001243133.2:p.S624R

Associated Papers

Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.

Birk-Bachar M et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease.

Oziębło D et al.

Frontiers in Immunology, 2022

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