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FARS2 gene
Known as:
FARS2
, phenylalanine tRNA ligase 2, mitochondrial
, dJ236A3.1
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
D. Ville
,
G. Lesca
,
A. Labalme
,
V. Portes
,
A. Arzimanoglou
,
J. de Bellescize
Epileptic disorders
2020
Corpus ID: 220254332
Epilepsy of infancy with migrating focal seizures (EIMFS) is now a well-recognized early-onset syndrome included in the ILAE…
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2017
2017
Kinetic and structural changes in H smt PheRS, induced by pathogenic mutations in human FARS 2
E. Kartvelishvili
,
D. Tworowski
,
+5 authors
M. Safro
Protein Science
2017
Corpus ID: 9729583
Mutations in the mitochondrial aminoacyl‐tRNA synthetases (mtaaRSs) can cause profound clinical presentations, and have…
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2015
2015
Mutations in FARS2 and non‐fatal mitochondrial dysfunction in two siblings
H. Vernon
,
Rebecca McClellan
,
D. Batista
,
S. Naidu
American Journal of Medical Genetics. Part A
2015
Corpus ID: 10466496
Recently, mutations in FARS2, which encodes for mitochondrial phenylalanyl–tRNA synthetase, have been implicated in autosomal…
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1987
1987
Echocardiography and the Evolution of Cardiac Imaging
D. Skorton
1987
Corpus ID: 59102061
Imaging techniques are among the most commonly used diagnostic approaches to patients with heart and vascular diseases. Recently…
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