Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.G105G
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CHAT

NM_020549.5:p.G105G

Associated Papers

Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.

Marques RF et al.

Human Molecular Genetics, 2020

32686835 (PubMed )
Supplement: clean-marques_et_al_supplementary_material_ddaa140.docx

Rodent Models of Amyotrophic Lateral Sclerosis.

Philips T et al.

Current Protocols in Pharmacology, 2015

ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arbor.

Liu-Yesucevitz L et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Similar dose-dependence of motor neuron cell death caused by wild type human TDP-43 and mutants with ALS-associated amino acid substitutions.

Wu LS et al.

Journal of Biomedical Science, 2013

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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."