Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D317G
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COMP

NM_000095.3:p.D317G

Associated Papers

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Jacob P et al.

European Journal of Human Genetics : Ejhg, 2025

Torticollis in Connection with Spine Phenotype.

Al Kaissi A et al.

Diagnostics (basel, Switzerland), 2022

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

Guo BB et al.

Biomed Research International, 2021

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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."