Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.M1delins
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P3H1

NM_022356.4:p.M1delins

Associated Papers

Expanding the Genotypic and Phenotypic Spectrum of P3H1 Related Osteogenesis Imperfecta.

Kındış E et al.

Calcified Tissue International, 2025

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL et al.

Journal of Bone and Mineral Metabolism, 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."