Publications
Export 3 results:
Author Title [ Year] Filters: Keyword is Mutation, Missense and Author is Õunap, Katrin [Clear All Filters]
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett 594, 717-727 (2020).
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).