Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D605N
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COMP

NM_000095.3:p.D605N

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

The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding.

Tan K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.

Kennedy J et al.

Human Mutation, 2005

[Clinico-genetic analysis of multiple epiphyseal dysplasia].

Meerson EM et al.

Ortopediia Travmatologiia I Protezirovanie, 1985

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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."