Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.I249delFs
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CCN6

NM_198239.2:p.I249delFs

Associated Papers

Identification and functional analysis of CCN6 variants in progressive pseudorheumatoid dysplasia: Exploring the potential role of ferroptosis and apoptosis in chondrocytes.

Sheng Y et al.

Genes & Diseases, 2026

41262529 (PubMed )
Supplement: mmc6.xlsx › ___1

Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report.

Omar AA et al.

Journal of Medical Case Reports, 2021

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.

Gaboon NEA et al.

Frontiers in Pediatrics, 2019

An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.

Balci S et al.

Clinical and Experimental Rheumatology, 0

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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."