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RARS2 gene

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

Related topics

Related topics

1 relation
Arginine-tRNA Ligase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.
Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial… 
2016
2016
Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability
Intellectual disability is a heterogeneous disease with many genes and mutations influencing the phenotype. Consanguineous… 
2015
2015
Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel…
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset… 
2014
2014
Neuropathologic Features of Pontocerebellar Hypoplasia Type 6
Abstract Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and… 
2013
2013
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
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
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… 
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