Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Clinical Case Reports(2021)

引用 5|浏览0
暂无评分
摘要
Catecholaminergic Polymorphic Ventricular Tachycardia is a life-threatening disorder. The clinical diagnosis is challenging owing to the absence of electrocardiogram and overt structural heart abnormalities in the majority of patients. Approximately 35% of cases remain without a genetic etiology. Here, we identified two genes as a novel promising candidate for CPVT.
更多
查看译文
关键词
AGRN gene,CPVT,known gene-novel gene association,RPL3L gene,whole exome sequencing
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