| Name | Tetralogy of Fallot (TOF) (U:Y) |
| Description | Pseudouridylation level on snRNA U2 depends on expression level of scaRNA1that is linked with TOF |
| Related RNA reaction | U:Y |
| Found in RNA | snRNA |
| Modified Transcript | snRNA U2 |
| Mapping Technology | Ψ-seq |
| Quantification techniques | qPCR |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| PUS7 | Pseudouridylate synthase 7 homolog | None | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1055 | Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly,Short Stature, and Aggressive Behavior. | de Brouwer APM | Am J Hum Genet | [details] | 30526862 | S0002-9297(18)30402-6 |