Abstract 14385: Genome Sequencing and Re-Engineered Heart Cell-Disease Modeling Identifies a Novel Deep Intronic Variant in a Multi-Generational Long QT Syndrome Pedigree

Kathryn E. Tobert,David J. Tester,Wei Zhou,Carla M Haglund-Turnquist,John R. Giudicessi,Michael J. Ackerman

Circulation（2021）

引用 0|浏览1

暂无评分

摘要

Introduction: Most of long QT syndrome (LQTS) is explained by pathogenic variants in KCNQ1, KCNH2, or SCN5A. However, ~10-20% of LQTS index cases remain genetically elusive following commercial gen...

查看译文

关键词

long qt syndrome,genome,intronic variant,re-engineered,cell-disease,multi-generational

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