Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.I293Splc
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RARS2

NM_020320.5:p.I293Splc

Associated Papers

A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.

Sevinç S et al.

Molecular Syndromology, 2022

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

de Valles-Ibáñez G et al.

Epilepsia Open, 2022

Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.

Zhang J et al.

Experimental and Therapeutic Medicine, 2018

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

Nishri D et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."