Variant: rs587777585 

    present in Gene: VARS2
    present in Chromosome: 6
    Position on Chromosome: 30918851
    Alleles of this Variant: C/G;T

rs587777585 in VARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

rs587777585 in VARS2 gene and Dysmorphic features PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

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

PMID 27502409 2017 Neonatal encephalocardiomyopathy caused by mutations in VARS2.

rs587777585 in VARS2 gene and Movement Disorders PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

PMID 27502409 2017 Neonatal encephalocardiomyopathy caused by mutations in VARS2.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.