Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.Y116Splc
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CCN6

NM_198239.2:p.Y116Splc

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

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

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."