Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.Q338L
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CCN6

NM_198239.2:p.Q338L

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 involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.

Wang W et al.

Medicine, 2023

37417608 (PubMed )
Supplement: medi-102-e34099-s001.pdf

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR et al.

Cold Spring Harbor Molecular Case Studies, 2018

Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.

Sun J et al.

Plos One, 2012

[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].

Ye J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.

Nakamura Y et al.

The Journal of Clinical Investigation, 2007

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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."