Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
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DOI: 10.1186/s13073-024-01339-y
Abstract: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in… read more here.
Keywords: aff3; lof lof; variant specific; kinsship ... See more keywords