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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A2

Variant:p.I39del1

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SLC2A2

NM_000340.2:p.I39del1

hg38:chr3:171014722 ATAT>A

Associated Papers

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.

Enogieru OJ et al.

Human Mutation, 2019

30950137 (PubMed )

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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."