Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.E333D
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GARS1

NM_002047.4:p.E333D

Associated Papers

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

Markovitz R et al.

American Journal of Medical Genetics. Part A, 2020

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.

Xie Y et al.

Frontiers in Neurology, 2020

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.

Mo Z et al.

Nature Communications, 2018

29520015 (PubMed )
Supplement: 41467_2018_3461_MOESM2_ESM.pdf

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V.

Yu X et al.

Frontiers in Neurology, 2018

A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.

Sun A et al.

Neurological Research, 2015

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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."