The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing

Yavas et al. (2026) used Genomize-SEQ to annotate and filter whole-exome sequencing data from a 7-year-old girl with unexplained cognitive impairment and microcephaly, identifying a novel homozygous ATP9A variant that structurally destabilizes the protein and underlies her neurodevelopmental disorder.