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  1. 1.   A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
  2. Vocke, Cathy D; Ricketts, Christopher J; Pack, Svetlana; Raffeld, Mark; Hewitt, Stephen; Lebensohn, Alexandra P; O'Brien, Lidenys; Gautam, Rabindra; Reynolds, Krista; Schmidt,Laura; Choo, Kristin; Kenigsberg, Alex; Gurram, Sandeep; Chew, Emily Y; Nilubol, Naris; Chittaboina, Prashant; Merino, Maria J; Ball, Mark W; Linehan, W Marston
  3. Journal of Medical Genetics. 2024, Sep 24;
  1. 2.   A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
  2. Ricketts, Christopher J; Vocke, Cathy D; Lang, Martin; Chen,Jack; Zhao,Yongmei; Tran,Bao; Tandon, Mayank; Schmidt, Laura S; Ball, Mark W; Linehan, W Marston
  3. Journal of Medical Genetics. 2022, Jan; 59(1): 18-22.
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