Varaico: Literature-Extracted Genetic Variants

Gene:GART
Variant:p.Q216R
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GART

NM_000819.5:p.Q216R

Associated Papers

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.

Ferreira T et al.

Journal of Neurology, 2024

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V et al.

Human Molecular Genetics, 2018

Genetic heterogeneity of motor neuropathies.

Bansagi B et al.

Neurology, 2017

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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."