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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Detalles Bibliográficos
Autores principales: Balasubramanian, Meena, Hobson, Emma, Skae, Mars, McCaughey, Janine, Stephens, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900390/
https://www.ncbi.nlm.nih.gov/pubmed/31568717
http://dx.doi.org/10.1002/mgg3.912

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900390/
https://www.ncbi.nlm.nih.gov/pubmed/31568717
http://dx.doi.org/10.1002/mgg3.912

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