Associated Papers
Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation.
Joseph B et al.
Stem Cell Research, 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
Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder.
Li X et al.
Frontiers in Pediatrics, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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
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