A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
冯·希佩尔-林道病中一种新的致病性生殖系 3 号染色体倒位
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmg-2024-110202
Cathy D Vocke, Christopher J Ricketts, Svetlana Pack, Mark Raffeld, Stephen Hewitt, Alexandra P Lebensohn, Lidenys O'Brien, Rabindra Gautam, Krista Reynolds, Laura S Schmidt, Kristin Choo, Alex Kenigsberg, Sandeep Gurram, Emily Y Chew, Naris Nilubol, Prashant Chittaboina, Maria J Merino, Mark W Ball