Condition: D-2-HYDROXYGLUTARIC ACIDURIA 2
rs121913502
in
IDH2
gene and
D-2-HYDROXYGLUTARIC ACIDURIA 2
PMID 20847235
2010 IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
PMID 21889589
2011 A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.