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  1. Article

    Open Access

    A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report

    Von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome predisposing the patient to a variety of malignant and benign neoplasms, most frequently hemangioblastoma, renal cell carcinom...

    Takeshi Asakawa, Mariko Esumi, Sohei Endo, Akinori Kida… in BMC Medical Genetics (2012)

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