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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion
Li–Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome caused by heterozygous germline mutations in the TP53 gene. Although more than 200 missense and null TP53 mutations are well established as disease-causing, little is known about the pathogenicity and cancer risks associ...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672031/ https://www.ncbi.nlm.nih.gov/pubmed/30886117 http://dx.doi.org/10.1101/mcs.a003921 |