Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.Q295delFs
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PRG4

NM_005807.6:p.Q295delFs

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

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

Bağrul İ et al.

Pediatric Rheumatology Online Journal, 2023

Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.

Zheng M et al.

Bmc Cardiovascular Disorders, 2022

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

Brothers with constrictive pericarditis - A novel mutation in a rare disease.

Patil DV et al.

Indian Heart 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."