Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.G320Fs
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FBP1

NM_000507.4:p.G320Fs

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

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf
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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."