Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype

• Eonah Kim,
• Chang-Seok Ki,
• Sohye Park,
• Kyung Yeon Lee

Affiliations

Eonah Kim

Department of Pediatrics, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea

Chang-Seok Ki

GC Genome, Yongin, Korea

Sohye Park

Department of Pediatrics, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea

Kyung Yeon Lee

Department of Pediatrics, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea