Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
全外显子组测序在CNTN2、CARS2、ARSA和CLCN4基因中发现了五个新的变异,这些变异会导致近亲结婚家族成员患癫痫。
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1185065
Abdulkareem, Angham Abdulrhman; Zaman, Qaiser; Khan, Hamza; Khan, Sabar; Rehman, Gauhar; Tariq, Nabeel; Ahmad, Mashal; Owais, Muhammad; Najumuddin; Muthaffar, Osama Yousef; Bibi, Fehmida; Khang, Rin; Ryu, Seung Woo; Naseer, Muhammad Imran; Jelani, Musharraf