Varaico: Literature-Extracted Genetic Variants

Gene:COPA
Variant:p.W240R
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COPA

NM_004371.4:p.W240R

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

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

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

Kechiche R et al.

Journal of Clinical Immunology, 2024

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

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

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

Simchoni N et al.

Rheumatic Diseases Clinics of North America, 2023

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

Bader-Meunier B et al.

Rheumatology (oxford, England), 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

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Lepelley A et al.

The Journal of Experimental Medicine, 2020

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

Taveira-DaSilva AM et al.

Journal of Medical Genetics, 2019

Genetics of COPA syndrome.

Kumrah R et al.

The Application of Clinical Genetics, 2019

Imaging findings of Copa syndrome in a 12-year-old boy.

Noorelahi R et al.

Pediatric Radiology, 2018

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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."