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Biallelic inactivating mutations of the transcription factor 1 gene (TCF1), encoding hepatocyte nuclear factor 1a (HNF1a), were identified in 50% of hepatocellular adenomas (HCA) phenotypically characterized by a striking steatosis. To understand the molecular basis of this aberrant lipid storage, w...
ORGANISM(S): Homo sapiens 
high depth WGS sequencing of 8 sites of a RET fusion tumour
Deep WGS sequencing (160x) of 2 different sites of disease of a patient with a RET fusion positive cancer. Amplicon sequencing of 19 other sites of the same patients for the RET fusion.
Identifying modes of resistance to a new experimental drug for a patient resistant to other therapies
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