Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
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DOI: 10.1042/bcj20220209
Abstract: Single-minded 2 (SIM2) is a neuron-enriched basic Helix–Loop–Helix/PER–ARNT–SIM (bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2… read more here.
Keywords: sim2 variants; functionally deficient; found patients; characterization functionally ... See more keywords