Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D475H
Back to variants list

COMP

NM_000095.3:p.D475H

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

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.

Zhang H et al.

Journal of Human Genetics, 2015

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."