Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
A novel de novo heterozygous mutation in the kinase domain of the DYRK1A gene. (a) Sanger sequencing confirmed a heterozygous novel DYRK1A variant, c.1185dup (p.E396ter) (NM_001396.3), in exon 8 that was identified by exome sequencing of the patient’s genome. (b) Schematic diagram of the DYRK1A catalytic domain. The location of the mutation and the translational termination codon (E396ter) is indicated as a red arrow.
