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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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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Ma, Dexuan, Yang, Jingyun, Wang, Ying, Huang, Xiang, Du, Guhong, Zhou, Liangfu
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha: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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