Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G451S
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COL1A2

NM_000089.4:p.G451S

Associated Papers

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Senturk L et al.

Fetal Diagnosis and Therapy, 2024

Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.

Galicka A et al.

Molecular and Cellular Biochemistry, 2003

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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."