Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D473Y
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COMP

NM_000095.3:p.D473Y

Associated Papers

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Guo BB et al.

Biomed Research International, 2021

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

Mesomelic dwarfism in pseudoachondroplasia.

Song HR et al.

Journal of Pediatric Orthopedics. Part B, 2004

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Song HR et al.

Journal of Human Genetics, 2003

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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."