Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.Y598F
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COL10A1

NM_000493.4:p.Y598F

Associated Papers

Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.

Marks DS 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."