EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.1.1.20 | Brain Diseases |
22833457 |
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. |
causal interaction
diagnostic usage
unassigned |
2
1
0 |
| 6.1.1.20 | Brain Diseases |
25851414 |
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 6.1.1.20 | Brain Diseases |
27549011 |
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. |
causal interaction
unassigned |
4
0 |
| 6.1.1.20 | Brain Diseases |
28043061 |
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. |
causal interaction
unassigned |
2
0 |
| 6.1.1.20 | Brain Diseases |
30177229 |
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 6.1.1.20 | Brain Diseases |
30250868 |
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. |
causal interaction
unassigned |
2
0 |
| 6.1.1.20 | Brain Diseases |
31241862 |
Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase. |
ongoing research
unassigned |
3
0 |
| 6.1.1.20 | Brain Diseases |
32597768 |
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant. |
causal interaction
ongoing research
unassigned |
3
1
0 |
| 6.1.1.20 | Brain Diseases |
32774346 |
FARS2 Mutations: More Than Two Phenotypes? A Case Report. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 6.1.1.20 | Brain Diseases |
33168986 |
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
2
2
2 |
