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POT1 mutation spectrum in tumor types commonly diagnosed among POT1-associated hereditary cancer syndrome families
BACKGROUND: The shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with diverse malignancies including glioma, angio...
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| Publicat a: | J Med Genet |
|---|---|
| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7427478/ https://ncbi.nlm.nih.gov/pubmed/31937561 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106657 |
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