Varaico: Literature-Extracted Genetic Variants

Gene:COL10A1
Variant:p.L652F
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COL10A1

NM_000493.4:p.L652F

Associated Papers

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

Meng L et al.

Calcified Tissue International, 2025

High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.

Amaratunga SA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."