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There has been success in rescuing haploinsufficiency of the UBE3A gene through CRISPR-Cas9-mediated transcriptional inhibition of the UBE3A NAT in mice—effectively restoring UBE3A expression through re-activation of the paternal copy [58, 60]

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Health and social care professionals providing NHS-commissioned services Commissioners of services Laboratories People with confirmed or suspected vitamin B12 deficiency, their families and carers Guideline development process How we develop NICE guidelines Your responsibility The recommendations in this guideline represent the view of NICE, arrived at after careful consideration of the evidence available