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Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients
Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. We performed whole exome sequencing on 11 HB patients to further elucidate the genetic...
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| Publié dans: | Am J Med Genet A |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5603408/ https://ncbi.nlm.nih.gov/pubmed/28742274 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38350 |
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