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Article

Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.

American journal of medical genetics. Part A - 1 Oct 2017

Ma Dexuan, Yang Jingyun, Wang Ying, Huang Xiang, Du Guhong, Zhou Liangfu

Abstract excerpt

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, of which there were 86 mutations in 67 genes, were found...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28742274
DOI: 10.1002/ajmg.a.38350
PMCID: PMC5603408

Genes

VHL
ABCA6
CWC27
DLG2
KLHL12
LAMA2
MUC7
OTOGL
PCDH9
PLCB4
PNN
RIMS1
SCEL
THSD4
WWOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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