Varaico: Literature-Extracted Genetic Variants

Gene:FBP1
Variant:p.Y280fs
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FBP1

NM_000507.4:p.Y280fs

Associated Papers

Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association.

Ni Q et al.

Frontiers in Genetics, 2024

39036704 (PubMed )
Supplement: Table1.XLSX › Table_S1

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.

Santer R et al.

Orphanet Journal of Rare Diseases, 2016

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