Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.T590_C591delFs
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COL10A1

NM_000493.4:p.T590_C591delFs

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

33764685 (PubMed )
Supplement: MGG3-9-e1668-s001.pdf

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Bateman JF et al.

Human Mutation, 2005

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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."