Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D471G
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COMP

NM_000095.3:p.D471G

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

[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

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Kennedy J et al.

European Journal of Human Genetics : Ejhg, 2005

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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."