Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.Y109*
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CCN6

NM_198239.2:p.Y109*

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

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

Guven Tasbicen G et al.

International Journal of Molecular Sciences, 2025

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

El Dessouki D et al.

American Journal of Medical Genetics. Part A, 2023

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR et al.

Cold Spring Harbor Molecular Case Studies, 2018

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

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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."