Varaico: Literature-Extracted Genetic Variants

Gene:COPA
Variant:p.R281W
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COPA

NM_004371.4:p.R281W

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

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

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

Li X et al.

Frontiers in Pediatrics, 2023

A toddler with an unusually severe polyarticular arthritis and a lung involvement: a case report.

Basile P et al.

Bmc Pediatrics, 2022

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

Bader-Meunier B et al.

Rheumatology (oxford, England), 2021

Splice-site mutation in COPA gene and familial arthritis - a new frontier.

Banday AZ et al.

Rheumatology (oxford, England), 2021

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

Suri D et al.

Frontiers in Immunology, 2021

A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.

Zeng J et al.

Frontiers in Pediatrics, 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."