Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.Y582H
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COL10A1

NM_000493.4:p.Y582H

Associated Papers

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.

Bateman JF et al.

Human Mutation, 2004

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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."