Next generation sequencing of a custom gene panel to improve the diagnosis of patients with inherited predisposition to colorectal polyposis
Polyposis syndromes are a group of diseases predisposing to cancer. In general, the genetic mechanisms are well established, but in recente years several pathogenic variants in emergent genes have been associated to theses phenotypes. The main goal of this study was to search for pathogenic variants...
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| Formato: | masterThesis |
| Idioma: | eng |
| Publicado em: |
2022
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| Texto completo: | http://hdl.handle.net/10400.22/19857 |
| País: | Portugal |
| Oai: | oai:recipp.ipp.pt:10400.22/19857 |