Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.K939delFs
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PRG4

NM_005807.6:p.K939delFs

Associated Papers

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

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

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Rashid M et al.

Nature Communications, 2019

31101826 (PubMed )
Supplement: 41467_2019_9979_MOESM5_ESM.xlsx › Supp_table_2b

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

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

Basit S et al.

Archives of Medical Research, 2011

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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."