Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.S290fs
Back to variants list

CCN6

NM_198239.2:p.S290fs

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

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

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

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR et al.

Cold Spring Harbor Molecular Case Studies, 2018

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.

Alawbathani S 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

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Dalal A et al.

American Journal of Medical Genetics. Part A, 2012

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."