Condition: Decreased urinary copper concentration
rs267606959
in
POLG
gene and
Decreased urinary copper concentration
PMID 20142534
2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
PMID 20883824
2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.