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.