Varaico: Literature-Extracted Genetic Variants

Gene:CARS2
Variant:p.R346W
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CARS2

NM_024537.4:p.R346W

Associated Papers

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.

Poquérusse J et al.

Jimd Reports, 2023

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

Expanding the electro-clinical phenotype of CARS2associated neuroregression.

Kapoor D et al.

Epilepsy & Behavior Reports, 2021

[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].

Wu TH et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

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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."