Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.L112_R121insFs
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CRTAP

NM_006371.5:p.L112_R121insFs

Associated Papers

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

Ludwig K et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

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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."