Varaico: Literature-Extracted Genetic Variants

Gene:CCN2
Variant:p.D52E
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CCN2

NM_001901.4:p.D52E

Associated Papers

Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Torreggiani S et al.

Rheumatology International, 2019

Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.

Delague V et al.

American Journal of Medical Genetics. Part A, 2005

A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.

Riaz M et al.

Journal of Ayub Medical College, Abbottabad : Jamc, 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."