Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.I89V
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SLC5A7

NM_021815.5:p.I89V

Associated Papers

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.

Pugliese A et al.

Journal of Neuromuscular Diseases, 2023

Disrupted Choline Clearance and Sustained Acetylcholine Release In Vivo by a Common Choline Transporter Coding Variant Associated with Poor Attentional Control in Humans.

Donovan E et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Bhat S et al.

Pharmacology & Therapeutics, 2021

Genome wide association studies for treatment-related adverse effects of pediatric acute lymphoblastic leukemia.

Franca R et al.

Wires Mechanisms of Disease, 2021

Modulation of sodium-coupled choline transporter CHT function in health and disease.

Ojiakor OA et al.

Neurochemistry International, 2020

Association of gene coding variation and resting metabolic rate in a multi-ethnic sample of children and adults.

Hellwege JN et al.

Bmc Obesity, 2017

28417008 (PubMed )
Supplement: 40608_2017_145_MOESM1_ESM.pdf

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S et al.

American Journal of Human Genetics, 2016

Cholinergic modulation of auditory P3 event-related potentials as indexed by CHRNA4 and CHRNA7 genotype variation in healthy volunteers.

Hyde M et al.

Neuroscience Letters, 2016

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0008-Table_S11.xlsx › Sheet1

Cholinergic capacity mediates prefrontal engagement during challenges to attention: evidence from imaging genetics.

Berry AS et al.

Neuroimage, 2015

Molecular properties of the high-affinity choline transporter CHT1.

Haga T

Journal of Biochemistry, 2014

Disposed to distraction: genetic variation in the cholinergic system influences distractibility but not time-on-task effects.

Berry AS et al.

Journal of Cognitive Neuroscience, 2014

Choline transporter gene variation is associated with attention-deficit hyperactivity disorder.

English BA et al.

Journal of Neurodevelopmental Disorders, 2009

Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.

Neumann SA et al.

Biological Psychiatry, 2006

Choline transporter 1 maintains cholinergic function in choline acetyltransferase haploinsufficiency.

Brandon EP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004

Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate.

Okuda T et al.

The Journal of Biological Chemistry, 2002

Heart rate variability is associated with polymorphic variation in the choline transporter gene.

Neumann SA et al.

Psychosomatic Medicine, 0

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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."