VHL syndrome

Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study
Haibiao Xie, Kaifang Ma, Jiufeng Zhang, Baoan Hong, Jingcheng Zhou, Lei Li, Kenan Zhang, Kan Gong, Lin Cai

Journal of Medical Genetics Nov 2020, 57 (11) 744-751; DOI: 10.1136/jmedgenet-2019-106336

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VHL syndrome