Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D472_D473del0
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COMP

NM_000095.3:p.D472_D473del0

Associated Papers

Genetic Testing for Global Developmental Delay in Early Childhood.

Zhang J et al.

Jama Network Open, 2024

38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2

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

[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].

Lu CT et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013

A novel COMP mutation in a Chinese patient with pseudoachondroplasia.

Xie X et al.

Gene, 2013

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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."