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
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Han ST et al.
Molecular Genetics and Metabolism, 2022
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