Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.V677delFs
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COL10A1

NM_000493.4:p.V677delFs

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

A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.

Zhu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

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