Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A4
Variant:p.A138T
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SLC29A4

NM_153247.4:p.A138T

Associated Papers

Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates.

DiCarlo GE et al.

Neuroscience and Biobehavioral Reviews, 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

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism.

Ramaekers VT et al.

Autism Research and Treatment, 2020

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.

Adamsen D et al.

Molecular Autism, 2014

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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."