Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.Y597C
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COL10A1

NM_000493.4:p.Y597C

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

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

Sawai H et al.

Journal of Human Genetics, 1998

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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."