Variant: rs1557042808 

    present in Gene: SLC35A2
    present in Chromosome: X
    Position on Chromosome: 48905114
    Alleles of this Variant: A/-

rs1557042808 in SLC35A2 gene and Dysmorphic features PMID 25778940 2015 A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

PMID 25877686 2015 Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

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

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 8889805 1996 Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

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

PMID 9010752 1996 Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.