Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
Wakeling Mn, Owens Ndl, Hopkinson JR,Johnson Mb, Houghton Jal,Antonia Dastamani, Flaxman CS, Wyatt RC, Hewat TI,Hopkins JJ,Laver Tw,van Heugten R,Weedon Mn,Elisa De Franco,Patel Ka,Sian Ellard, Michelle Ng,Edmund Cheesman,Indraneel Banerjee,AT Hattersley, Dunne Mj, Richardson SJ,Flanagan SE Yearbook of pediatric endocrinology（2023）
关键词
hk1,non-coding,tissue-specific
AI 理解论文
溯源树
样例
