Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.T430delFs
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PRG4

NM_005807.6:p.T430delFs

Associated Papers

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

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Peters B et al.

Pediatric Rheumatology Online Journal, 2016

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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."