Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan - Tamura, Kenji; Kanazashi, Yuki; Kawada, Chiaki; Sekine, Yuya; Maejima, Kazuhiro; Ashida, Shingo; Karashima, Takashi; Kojima, Shohei; Parrish, Nickolas F; Kosugi, Shunichi; Terao, Chikashi; Sasagawa, Shota; et al. (Human molecular genetics, 2023)
Keywords: DNA Mutational Analysis; Genomics; Humans; Japan; Original; Pedigree; von Hippel-Lindau Disease - diagnosis; von Hippel-Lindau Disease - genetics; Von Hippel-Lindau Tumor Suppressor Protein - genetics; Japan