Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D319V
Back to variants list

COMP

NM_000095.3:p.D319V

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

Guo BB et al.

Biomed Research International, 2021

[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].

Wang H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

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."