Associated Papers
The Biology of tRNA t6A Modification and Hypermodifications-Biogenesis and Disease Relevance.
Zhang W et al.
Journal of Molecular Biology, 2025
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.
Chen J et al.
Frontiers in Molecular Neuroscience, 2023
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.
Treimer E et al.
Human Mutation, 2022
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA et al.
Nature Genetics, 2017
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