Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.R252K
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NLRP3

NM_004895.5:p.R252K

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Koti AS et al.

American Journal of Medical Genetics. Part A, 2023

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