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Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis
BACKGROUND: With increased access to genetic testing, variants of uncertain significance (VUS) where pathogenicity is uncertain are being increasingly identified. More than 85% Osteogenesis Imperfecta (OI) patients have pathogenic variants in COL1A1/A2. However, when a VUS is identified, there are n...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6900390/ https://ncbi.nlm.nih.gov/pubmed/31568717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.912 |
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