Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.C78Y
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CCN6

NM_198239.2:p.C78Y

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

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

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 case series report.

Liu Z et al.

Translational Pediatrics, 2021

Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases.

Sheth H et al.

Frontiers in Genetics, 2021

CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.

Wang Y et al.

Molecular Genetics & Genomic Medicine, 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

The promise of discovering population-specific disease-associated genes in South Asia.

Nakatsuka N et al.

Nature Genetics, 2017

WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.

Madhuri V et al.

Bone & Joint Research, 2016

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS et al.

American Journal of Medical Genetics. Part A, 2015

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

Ekbote AV et al.

Seminars in Arthritis and Rheumatism, 2013

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

Dalal A et al.

American Journal of Medical Genetics. Part A, 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."