Condition: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20


rs587777583 in VARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.