Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A2
Variant:p.S73*
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SLC2A2

NM_000340.2:p.S73*

Associated Papers

Identification of an unusual variant of Fanconi-Bickel syndrome presenting as proximal tubulopathy and short stature.

Roque do Vale Afonso M et al.

Bmj Case Reports, 2026

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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."