Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.V268_V270del0
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CRTAP

NM_006371.5:p.V268_V270del0

Associated Papers

The administration of exogenous HSP47 as a collagen-specific therapeutic approach.

Besio R et al.

Jci Insight, 2025

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

Marulanda J et al.

Bone, 2022

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.

Besio R et al.

Disease Models & Mechanisms, 2019

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.

Amor IM et al.

American Journal of Medical Genetics. Part A, 2011

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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."