Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.C223G
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CCN6

NM_198239.2:p.C223G

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

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 compound heterozygous mutation of WISP3 in progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis.

Chen Z et al.

Qjm : Monthly Journal of the Association of Physicians, 2022

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6

A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.

Yin L et al.

Clinical Rheumatology, 2022

Progressive pseudorheumatoid dysplasia: a case series report.

Liu Z et al.

Translational Pediatrics, 2021

Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.

Al Kaissi A et al.

Clinical Rheumatology, 2020

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

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

Luo H et al.

Gene, 2015

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

Ye J et al.

Molecular Medicine Reports, 2012

Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).

Al Kaissi A et al.

Journal of Investigative Medicine High Impact Case Reports, 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."