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Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.

Pubmed ID: 
31893083
Year: 
2019
Month: 
Dec
Volume: 
7
Issue: 
12
Citation: 
Kaur S, Van Bergen NJ, Gold WA, Eggers S, Lunke S, White SM, Ellaway C, Christodoulou J. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient. Clinical case reports 7 (12) : 2476 - 2482(2019) PubMed