Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
[A child with Fructose-1,6-bisphosphatase deficiency due to variant of FBP1 gene: Genetic and clinical analysis and literature review].
Liu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Dalili S et al.
Molecular Genetics and Metabolism Reports, 2024
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.
Xin B et al.
Molecular Genetics & Genomic Medicine, 2024
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
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Sakuma I et al.
Communications Biology, 2023
A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
Liang X et al.
Archives of Biochemistry and Biophysics, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation.
Mei S et al.
Pediatric Investigation, 2019
[Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency].
Wu S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion.
Lee H et al.
Neuro Endocrinology Letters, 2019
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
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
Li N et al.
International Journal of Molecular Sciences, 2017
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
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 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-1,6-bisphosphatase gene mutation in two siblings.
Eren E et al.
Dna and Cell Biology, 2013
Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.
Moon S et al.
Metabolism: Clinical and Experimental, 2011
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
Kikawa Y et al.
American Journal of Human Genetics, 1997
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