Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A11
Variant:p.C524C
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SLC6A11

NM_014229.3:p.C524C

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.

Schijns OE et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis.

Chouchi M et al.

Bmc Neurology, 2017

Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.

Kim DU et al.

Journal of Human Genetics, 2011

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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."