Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes
全外显子组测序揭示了巴基斯坦近亲结婚家庭中 CNGA3、CACNA1F 和 RPGRIP1 的致病变异，这些家庭表现出不同的视网膜表型。
期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0327176
Tareen, Jahangir Khan; Khan, Hamid; Ghani, Shamsul; Khan, Saeed; Khan, Bakhtawar; Wu, Yurong; Khan, Muhammad Ajmal; Shah, Syed Shahab Ud Din; Hussain, Abrar; Kiyani, Mubin Mustafa; Bashir, Shahid; Rehman, Atta Ur; Shabbir, Muhammad Imran; Li, Hong-Tao
