Varaico: Literature-Extracted Genetic Variants

Gene:RARS2
Variant:p.I331V
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RARS2

NM_020320.5:p.I331V

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

Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.

Gong P et al.

Frontiers in Genetics, 2021

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

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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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."