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 genetics of HBs. A total of 270 somatic variations in 219 genes… (More)
DOI: 10.1002/ajmg.a.38350


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