Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.F599S
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COL10A1

NM_000493.4:p.F599S

Associated Papers

Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.

Wu H et al.

Molecular Genetics & Genomic Medicine, 2021

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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."