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Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome that occurs as a result of germline mutations in the APC gene. Despite a clear clinical diagnosis of FAP, a certain proportion of the APC variants are not readily detectable through conventional genotyping routines. We accomplished...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326037/ https://www.ncbi.nlm.nih.gov/pubmed/36828923 http://dx.doi.org/10.1038/s41431-023-01322-y |