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Mahal, A., Young-Lin, N., Dobberfuhl, A., Estes, J
Because KAT6A contains multiple functional domains, it is possible that ARTHS variants may result in a truncated protein that retains acetyltransferase activity but lacks proteinprotein interaction domains that regulate this activity
doi: 10.1038/s41598-020-66723-1 150 TsukaharaHShibataROhshimaYTodorokiYSatoSOhtaNet al
Seddon JM et al
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