PhenomeGene — Human Disease Gene Website SeriesSLC9A7

Publications

Khayat W et al. A recurrent missense variant in SLC9A7 causes non-syndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.Hum. Mol. Genet. 2019;28, 598-614. PMID: 30335141.