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 importance of pseudouridylation: human disorders related to the fifth nucleoside.
Keszthelyi TM et al.
Biologia Futura, 2023
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors.
Darvish H et al.
Neurology. Genetics, 2019
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
de Brouwer APM et al.
American Journal of Human Genetics, 2018
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