Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.Y598H
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COL10A1

NM_000493.4:p.Y598H

Associated Papers

Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells.

Chan D et al.

The Journal of Biological Chemistry, 1996

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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."