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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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| Опубликовано в: : | Am J Med Genet A |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2017
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| Предметы: | |
| Online-ссылка: | 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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