Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.A423_M424Splc
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SLC6A3

NM_001044.5:p.A423_M424Splc

Associated Papers

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.

Ng J et al.

Cells, 2023

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › SLC6A3_Short_Var_Pathogenetic

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
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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."