Associated Papers
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.
Bonde LD et al.
Hgg Advances, 2026
41383020 (PubMed )
Supplement: mmc2.pdf
Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome.
Dreggors-Walker RE et al.
The Journal of Biological Chemistry, 2022
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