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
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
Ain NU et al.
Journal of Medical Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
Park H et al.
European Journal of Medical Genetics, 2015
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