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Variants in the degron of <i>AFF3</i> cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

2019-07-17

Abstract excerpt

The ALF transcription factor paralogs, AFF1, AFF2, AFF3 and AFF4 , are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe a new autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its degradation. Consistent with a causative role of A...

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Literature Corpus work
997cc7b4-d84b-5cf3-bb31-2874ef22870c
DOI
10.1101/693937
Open publication

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