Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.G674R
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COL10A1

NM_000493.4:p.G674R

Associated Papers

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Meng L et al.

Calcified Tissue International, 2025

41454937 (PubMed )
Supplement: 223_2025_1457_MOESM2_ESM.xlsx › References

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

A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.

Chen Q et al.

Bone Reports, 2020

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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."