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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC6A1

Variant:p.N314S

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SLC6A1

NM_003042.4:p.N314S

hg38:chr3:11025864 A>G

Associated Papers

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Silva DB et al.

American Journal of Human Genetics, 2024

38781976 (PubMed )

Supplement: mmc10.pdf

Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder.

Pagerols M et al.

Scientific Reports, 2018

29382897 (PubMed )

Supplement: 41598_2018_20194_MOESM1_ESM.doc

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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."