Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.R255C
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FBP1

NM_000507.4:p.R255C

Associated Papers

Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.

Naito S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."