Normal allele: AA
Polymorphism increases the risk of biotin (vitamin B7) deficiency in children.
Polymorphism rs28934601 is related to topics like this:
Research and publications:
9375914 Profound biotinidase deficiency in two asymptomatic adults.
15060693 Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
22698809 Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
25174816 Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.