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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
2019
Review
2019
Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We… 
2016
2016
Intellectual disability is a heterogeneous disease with many genes and mutations influencing the phenotype. Consanguineous… 
2016
2016
BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… 
2015
2015
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… 
Highly Cited
2013
Highly Cited
2013
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset… 
2013
2013
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… 
Highly Cited
2012
Highly Cited
2012
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… 
Highly Cited
2011
Highly Cited
2011
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common…