Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.R1005H
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COL1A2

NM_000089.4:p.R1005H

Associated Papers

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."