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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
BACKGROUND: The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classifying missense variants, in-frame insertions/de...
Autores principales: | Cannon, S., Williams, M., Gunning, A. C., Wright, C. F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972633/ https://www.ncbi.nlm.nih.gov/pubmed/36855133 http://dx.doi.org/10.1186/s12920-023-01454-6 |
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