Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.Y632H
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COL10A1

NM_000493.4:p.Y632H

Associated Papers

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Bateman JF et al.

Human Mutation, 2005

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

Hampson K et al.

Journal of Medical Genetics, 2000

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Wallis GA et al.

Journal of Medical Genetics, 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."