Condition: Solute carrier family 35 member A2 congenital disorder of glycosylation


rs1557043622 in SLC35A2 gene and Solute carrier family 35 member A2 congenital disorder of glycosylation PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

PMID 23561849 2013 Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

PMID 24115232 2013 De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.