Genetic & Genomic MedicinemedRxivPreprint
Epileptic encephalopathy linked to a DALRD3 missense variant impaired in tRNA modification function
Kejia Zhang, Katharina Löhner, Henny H. Lemmink…·Dragony Fu
The paper identifies a DALRD3 missense variant causing epileptic encephalopathy by impairing tRNA modification function.
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