Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.C114W
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CCN6

NM_198239.2:p.C114W

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

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3

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

Guven Tasbicen G et al.

International Journal of Molecular Sciences, 2025

Case Report: A Novel CCN6 Compound Heterozygous Mutation in Progressive Pseudorheumatoid Dysplasia.

Yang YY et al.

International Journal of Rheumatic Diseases, 2025

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

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.

Wang W et al.

World Journal of Pediatrics : Wjp, 2023

A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia.

Zou YD et al.

Qjm : Monthly Journal of the Association of Physicians, 2023

Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Torreggiani S et al.

Rheumatology International, 2019

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR et al.

Cold Spring Harbor Molecular Case Studies, 2018

Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.

Hu Q et al.

Bmc Medical Genetics, 2017

Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.

Yu Y et al.

Molecular Medicine Reports, 2015

Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.

Liu L et al.

Joint Bone Spine, 2015

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.

Ye J et al.

Molecular Medicine Reports, 2012

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

Sun J et al.

Plos One, 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."