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Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.
Clin Case Rep
December 2019
Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome-like (RTT-like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT-like phenotypes.
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