Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D342H
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COMP

NM_000095.3:p.D342H

Associated Papers

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.

Briggs MD et al.

Human Mutation, 2002

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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."