Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.H341D
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CRTAP

NM_006371.5:p.H341D

Associated Papers

Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.

Marulanda J et al.

Bone, 2022

CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.

Fratzl-Zelman N et al.

Bone, 2010

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."