Varaico: Literature-Extracted Genetic Variants

Gene:COL9A3
Variant:p.P31P
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COL9A3

NM_001853.4:p.P31P

Associated Papers

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

Jakkula E et al.

European Journal of Human Genetics : Ejhg, 2005

Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.

Paassilta P et al.

The Journal of Biological Chemistry, 1999

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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."