Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K1000_P1001delFs
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PRG4

NM_005807.6:p.K1000_P1001delFs

Associated Papers

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review.

Ağır H et al.

Molecular Syndromology, 2025

Monogenic disorders as mimics of juvenile idiopathic arthritis.

Furness L et al.

Pediatric Rheumatology Online Journal, 2022

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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."