Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.P637delFs
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PRG4

NM_005807.6:p.P637delFs

Associated Papers

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Akalın A et al.

American Journal of Medical Genetics. Part A, 2025

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

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Singh S et al.

Clinical Dysmorphology, 2024

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report.

Bağrul İ et al.

Pediatric Rheumatology Online Journal, 2023

Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Johnson N et al.

Rheumatology International, 2021

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."