Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.A91A
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CRTAP

NM_006371.5:p.A91A

Associated Papers

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.

Udupa P et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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."