Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.S135fs
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CRTAP

NM_006371.5:p.S135fs

Associated Papers

CRTAP-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.

Barnes AM et al.

Cells, 2025

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Van Dijk FS et al.

European Journal of Human Genetics : Ejhg, 2009

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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."