Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
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
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I et al.
Communications Biology, 2023
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
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
Lebigot E et al.
Journal of Inherited Metabolic Disease, 2015
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.
Sharma AG et al.
Journal of Postgraduate Medicine, 0
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