P046: ACMG/AMP Variant Classification Framework in Arginase 1 Deficiency: Implications for Birth Prevalence Estimates and Diagnostics

Mayowa Osundiji,Jessie Cameron,Rory Olson, Bukola Olarewaju,Andreas Schulze

Genetics in medicine open（2024）

引用 0|浏览16
关键词
Arginase deficiency,hyperargininemia,birth prevalence,ARG1 gene,variant classification,variant pathogenicity
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要