Summary:

NameTetralogy of Fallot (TOF) (U:Y)
DescriptionPseudouridylation level on snRNA U2 depends on expression level of scaRNA1that is linked with TOF
Related RNA reactionU:Y
Found in RNAsnRNA
Modified TranscriptsnRNA U2
Mapping TechnologyΨ-seq
Quantification techniquesqPCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
PUS7 pseudouridine synthase 7 None Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
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

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