GeneticsThe American Journal of Human GeneticsPeer-reviewed
A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Shridhar Parthasarathy, Sarah McKeown Ruggiero, A. Gélot…·Vishnu Anand Cuddapah
The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.
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