Condition: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14


rs1298860043 in FARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

PMID 27095821 2016 Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.

PMID 22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

PMID 22833457 2012 Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

PMID 30177229 2018 FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

PMID 28043061 2017 FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

PMID 29126765 2017 New insights into the phenotype of FARS2 deficiency.

PMID 24161539 2014 Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.