Varaico: Literature-Extracted Genetic Variants

Gene:COPA
Variant:p.Q285H
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COPA

NM_004371.4:p.Q285H

Associated Papers

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.

David C et al.

Annals of the Rheumatic Diseases, 2025

Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome.

Kechiche R et al.

Journal of Clinical Immunology, 2024

COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.

Simchoni N et al.

Rheumatic Diseases Clinics of North America, 2023

Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder.

Li X et al.

Frontiers in Pediatrics, 2023

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.

Bader-Meunier B et al.

Rheumatology (oxford, England), 2021

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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."