Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G112V
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COL1A2

NM_000089.4:p.G112V

Associated Papers

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Morabito LA et al.

Genes, 2022

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.

Maioli M et al.

European Journal of Human Genetics : Ejhg, 2019

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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."