Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.P661delFs
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PRG4

NM_005807.6:p.P661delFs

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

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene.

Zhang JM et al.

The Journal of Rheumatology, 2022

Pseudo-rheumatic manifestations of limping: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Single case report and review of the literature.

Maniscalco V et al.

Frontiers in Pediatrics, 2022

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Yilmaz S et al.

Molecular Genetics & Genomic Medicine, 2018

29397575 (PubMed )
Supplement: MGG3-6-230-s002.xlsx › Appendix2
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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."