Varaico: Literature-Extracted Genetic Variants

Gene:CARS1
Variant:p.E795V
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CARS1

NM_001014437.3:p.E795V

Associated Papers

Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.

Wang Y et al.

Npj Genomic Medicine, 2026

A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex.

Liu HK et al.

Neuroscience Bulletin, 2024

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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."