Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.F293delFs
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CRTAP

NM_006371.5:p.F293delFs

Associated Papers

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D et al.

Human Mutation, 2008

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Morello R et al.

Cell, 2006

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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."