Associated Papers
A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.
Muda A et al.
American Journal of Medical Genetics. Part A, 2023
The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.
Guegueniat J et al.
Nucleic Acids Research, 2021
Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.
Naseer MI et al.
Saudi Journal of Biological Sciences, 2020
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors.
Darvish H et al.
Neurology. Genetics, 2019
Select a paper to view details