Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.R574H
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COL1A1

NM_000088.4:p.R574H

Associated Papers

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Tan W et al.

Journal of Immunology Research, 2022

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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."