Recurrent loss-of-function mutations of spliceosome gene, ZRSR2, occur in myelodysplastic syndromes (MDS). Mutation/loss of ZRSR2 in human myeloid cells primarily causes impaired splicing of the U12-

NIAID Data Ecosystem60

Efficient in vivo Genome Editing Prevents Hypertrophic Cardiomyopathy in Mice [Amplified_cDNA]. Efficient in vivo Genome Editing Prevents Hypertrophic Cardiomyopathy in Mice [Amplified_cDNA]

基因编辑治疗

肥厚型心肌病动物模型

Dominant pathogenic variants encoding amino acid substitutions in cardiac myosin heavy chain cause hypertrophic cardiomyopathy (HCM), a currently incurable disorder that increases risk for stroke, hea

NIAID Data Ecosystem50

Base editing of the HBG promoter induced potent fetal hemoglobin with no detectable off-target mutations in human HSCs

资源简介：

相关数据集