Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.G233R
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SLC2A1

NM_006516.4:p.G233R

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SLC2A1

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Schaller L et al.

Human Genetics, 2019

Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.

Tsai MH et al.

Frontiers in Neurology, 2018

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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."