Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.K204R
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FBP1

NM_000507.4:p.K204R

Associated Papers

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.

Pinheiro FC et al.

Genetics and Molecular Biology, 2021

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).

Bhai P et al.

Annals of Human Genetics, 2018

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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."