Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.E301_A302del1
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FBP1

NM_000507.4:p.E301_A302del1

Associated Papers

Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.

Magdy RM et al.

Italian Journal of Pediatrics, 2025

Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.

Elsayed SM et al.

Orphanet Journal of Rare Diseases, 2025

Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.

Gorce M et al.

Journal of Inherited Metabolic Disease, 2022

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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."