Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.L67P
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CRTAP

NM_006371.5:p.L67P

Associated Papers

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

Valli M et al.

Clinical Genetics, 2012

[Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].

Galicka A

Postepy Higieny I Medycyny Doswiadczalnej (online), 2012

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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."