Non-Coding Cis-Regulatory Variants in HK1 Cause Congenital Hyperinsulinism with Variable Disease Severity
Jasmin J. Bennett,Cécile Saint-Martin, Bianca Neumann,Jonna M. E. Männistö,Jayne A. L. Houghton,Susann Empting,Matthew B. Johnson,Thomas W. Laver,Jonathan M. Locke, Benjamin Spurrier,Matthew N. Wakeling,Indraneel Banerjee,Antonia Dastamani,Hüseyin Demirbilek,John Mitchell, Markus Stange,Klaus Mohnike,Jean-Baptiste Arnoux,Nick D. L. Owens,Martin Zenker, Christine Bellanné-Chantelot,Sarah E. Flanagan Genome Medicine(2025)
关键词
Congenital hyperinsulinism,Non-coding,Hexokinase 1,Monogenic disease,Variable penetrance
AI 理解论文
溯源树
样例
