Varaico: Literature-Extracted Genetic Variants

Gene:COPA
Variant:p.P145S
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COPA

NM_004371.4:p.P145S

Associated Papers

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

p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Jung J et al.

Iscience, 2021

34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5

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."