Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome
外显子组测序揭示了CRB2基因中一种新的剪接位点变异，该变异是肾病综合征的致病基因
期刊:Medicina-Lithuania
影响因子:2.4
doi:10.3390/medicina58121784
Simaab, Anam; Krishin, Jai; Alaradi, Sultan Rashid; Haider, Nighat; Shah, Muqadar; Ullah, Asmat; Abdullah, Abdullah; Ahmad, Wasim; Hansen, Torben; Basit, Sulman
