Varaico: Literature-Extracted Genetic Variants

Gene:GART
Variant:p.A57V
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GART

NM_000819.5:p.A57V

Associated Papers

Towards a Cure for HARS Disease.

Wilhelm SDP et al.

Genes, 2023

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.

Vinogradova ES et al.

Biochemistry. Biokhimiia, 2021

The role of tRNA synthetases in neurological and neuromuscular disorders.

Boczonadi V et al.

Febs Letters, 2018

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Oprescu SN et al.

Methods (san Diego, Calif.), 2017

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Nafisinia M et al.

Plos One, 2017

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

Liao YC et al.

Plos One, 2015

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Griffin LB et al.

Human Mutation, 2014

[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].

Kawakami N et al.

Rinsho Shinkeigaku = Clinical Neurology, 2014

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.

Wallen RC et al.

Current Opinion in Genetics & Development, 2013

GARS axonopathy: not every neuron's cup of tRNA.

Motley WW et al.

Trends in Neurosciences, 2010

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Rohkamm B et al.

Journal of the Neurological Sciences, 2007

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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."