present in Gene: IL11RA;GALT
present in Chromosome: 9
Position on Chromosome: 34650449
Alleles of this Variant: A/C
rs111033827 in
IL11RA;GALT gene and
Classical galactosemia
PMID 28065439 2017 Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
PMID 15841485 2005 Identification of novel mutations in classical galactosemia.