Sort   by:  
 Page size 
Genomicsena-DATASET-IfGH-11-05-2017-08:36:08:072-67 - samples
Clinical and genetic information of an individual with RVOT-VT and a KCNK2 (TREK1) gene mutation obtained after whole exome sequencing.
EGAD00001003328 | EGA
GenomicsWhole exome sequencing in RVOT patients
In a patient with right ventricular outflow tract (RVOT) tachycardia we identified a heterozygous point mutation in the selectivity filter of the stretch-activated K2P potassium channel TREK-1 (KCNK2 or K2P2.1). This mutation introduces abnormal sodium permeability to TREK-1 In addition, mutant chan...
EGAS00001002319 | EGA
GenomicsWhole exome sequencing in cardiovascular patients
Data Access Committee EGAC00001000621
EGAC00001000621 | EGA
Sort   by:  
 Page size