Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
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DOI: 10.1136/jmg-2022-108566
Abstract: BACKGROUND MAPK-activated protein kinase 5 (MAPKAPK5) is an essential enzyme for diverse cellular processes. Dysregulation of the pathways regulated by MAPKAPK enzymes can lead to the development of variable diseases. Recently, homozygous loss-of-function variants in… read more here.
Keywords: neurodevelopmental disorder; mapkapk5; consolidating association; syndromic neurodevelopmental ... See more keywords