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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC2A2

Variant:p.R185delFs

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SLC2A2

NM_000340.2:p.R185delFs

hg38:chr3:171007205 CCT>C

Associated Papers

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Du T et al.

Orphanet Journal of Rare Diseases, 2024

38365697 (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."