Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D472_D473ins0
Back to variants list

COMP

NM_000095.3:p.D472_D473ins0

Associated Papers

[Clinical analysis in 15 pediatric patients with osteochondrodysplasias related to COMP gene variants].

Li Q et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2025

A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.

Chen J et al.

Genes & Diseases, 2019

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Briggs MD et al.

European Journal of Human Genetics : Ejhg, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."