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RARS2 gene

Known as: RARS2, arginine tRNA ligase 2, mitochondrial (putative), MGC14993 
National Institutes of Health

Papers overview

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Review
2020
Review
2020
Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We… Expand
2016
2016
BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… Expand
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2016
2016
INTRODUCTION Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of… Expand
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2016
2016
Intellectual disability is a heterogeneous disease with many genes and mutations influencing the phenotype. Consanguineous… Expand
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2015
2015
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… Expand
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2014
2014
Abstract Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and… Expand
2013
2013
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… Expand
Highly Cited
2012
Highly Cited
2012
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset… Expand
2011
2011
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… Expand
Highly Cited
2011
Highly Cited
2011
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common… Expand
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