Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.V198M
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NLRP3

NM_001243133.2:p.V198M

Associated Papers

Clinical impact of whole-exome sequencing: 10 years of the Great Ormond Street Hospital Autoinflammation Centre of Excellence experience.

Price-Kuehne F et al.

Rheumatology (oxford, England), 2026

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Sensorineural hearing loss in anti-interleukin-1 treated CAPS patients: risk factors and real-life barriers-an observational study.

Satirer Ö et al.

Rheumatology (oxford, England), 2025

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

Neurological involvement in children with familial Mediterranean fever: a systematic review.

La Bella S et al.

Pediatric Rheumatology Online Journal, 2025

Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre.

Caterson HC et al.

Rheumatology (oxford, England), 2025

Refining treat-to-target strategies in cryopyrin-associated periodic syndromes: the role of inflammatory markers.

Satirer Ö et al.

Rheumatology (oxford, England), 2025

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

Feng S et al.

Nature Immunology, 2025

NLRP3-mediated glutaminolysis controls microglial phagocytosis to promote Alzheimer's disease progression.

McManus RM et al.

Immunity, 2025

Use of anakinra in cryopyrin-associated periodic syndromes: case report and review of literature.

Salas Sánchez M et al.

Frontiers in Immunology, 2025

Optical coherence tomography assessment of disease activity in cryopyrin-associated periodic syndrome.

Mulazzani E et al.

European Journal of Neurology, 2024

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.

Cosson C et al.

The Journal of Experimental Medicine, 2024

1–50 of 237 papers
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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."