Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.E207_S208Splc
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CRTAP

NM_006371.5:p.E207_S208Splc

Associated Papers

Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.

Dai X et al.

Efort Open Reviews, 2026

CRTAP-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.

Barnes AM et al.

Cells, 2025

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.

Zhou B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Nagaoka S et al.

Human Genome Variation, 2021

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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."