Varaico: Literature-Extracted Genetic Variants

Gene:CCN6
Variant:p.I260fs
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CCN6

NM_198239.2:p.I260fs

Associated Papers

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

El Dessouki D et al.

American Journal of Medical Genetics. Part A, 2023

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

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR et al.

Cold Spring Harbor Molecular Case Studies, 2018

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Bhavani GS et al.

American Journal of Medical Genetics. Part A, 2015

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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."