present in Gene: BCKDHB
present in Chromosome: 6
Position on Chromosome: 80168884
Alleles of this Variant: G/T
rs1057516799 in
BCKDHB gene and
Maple Syrup Urine Disease
PMID 8430702 1993 Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
PMID 16786533 2006 Mutational spectrum of maple syrup urine disease in Spain.