Associated Papers
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.
Pravata VM et al.
Febs Letters, 2020
Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.
Pravata VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
31296563 (PubMed )
Supplement: pnas.1900065116.sapp.pdf
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