Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.S600_V603insFs
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COL10A1

NM_000493.4:p.S600_V603insFs

Associated Papers

A detailed understanding of the COL10A1 and SOX9 genes interaction based on potentially damaging mutations in gastric cancer using computational techniques.

Aktas SH et al.

Journal of Biomolecular Structure & Dynamics, 2022

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

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.

Higuchi S et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2016

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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."