Varaico: Literature-Extracted Genetic Variants

Gene:HPD
Variant:p.W78*
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HPD

NM_002150.3:p.W78*

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: 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

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

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."