Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.L149R
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P3H1

NM_022356.4:p.L149R

Associated Papers

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

Kındış E et al.

Calcified Tissue International, 2025

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

Özen S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

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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."