Variant: rs201842633 

    present in Gene: EARS2
    present in Chromosome: 16
    Position on Chromosome: 23544671
    Alleles of this Variant: C/A;T

rs201842633 in EARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 PMID 26780086 2016 EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

PMID 22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

rs201842633 in EARS2 gene and Muscle hypotonia PMID 26619324 2016 Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

PMID 23008233 2013 Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

PMID 26780086 2016 EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

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

PMID 22492562 2012 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PMID 25854774 2015 Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.