Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.T147_N148insFs
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PPIB

NM_000942.5:p.T147_N148insFs

Associated Papers

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.

Li LJ et al.

Chinese Medical Journal, 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."