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A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence
The classification and interpretation of genetic variants associated with genetic diseases have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic findings in the literature and available databases. Th...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688707/ https://www.ncbi.nlm.nih.gov/pubmed/38032981 http://dx.doi.org/10.1371/journal.pone.0295010 |