Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.P301L
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CHAT

NM_020549.5:p.P301L

Associated Papers

Neuronal identity defines α-synuclein and tau toxicity.

Praschberger R et al.

Neuron, 2023

Gclc deficiency in mouse CNS causes mitochondrial damage and neurodegeneration.

Feng W et al.

Human Molecular Genetics, 2017

MRNA Levels of ACh-Related Enzymes in the Hippocampus of THY-Tau22 Mouse: A Model of Human Tauopathy with No Signs of Motor Disturbance.

García-Gómez BE et al.

Journal of Molecular Neuroscience : Mn, 2016

Pattern of tau hyperphosphorylation and neurotransmitter markers in the brainstem of senescent tau filament forming transgenic mice.

Morcinek K et al.

Brain Research, 2013

Impaired attention in the 3xTgAD mouse model of Alzheimer's disease: rescue by donepezil (Aricept).

Romberg C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

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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."