Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A4
Variant:p.D326E
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SLC29A4

NM_153247.4:p.D326E

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

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."