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Improved, ACMG-Compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants
Clinical interpretation of germline missense variants represents a major challenge, including those in the TP53 Li-Fraumeni syndrome gene. Bioinformatic prediction is a key part of variant classification strategies. We aimed to optimize the performance of the Align-GVGD tool used for p53 missense va...
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| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6043381/ https://ncbi.nlm.nih.gov/pubmed/29775997 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23553 |
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