rs121918188
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
9382095
1997
rs121918188
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
12126934
2002
rs121918188
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
25601412
2015
rs121918189
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
12126934
2002
rs121918189
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
25601412
2015
rs121918189
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
9382095
1997
rs121918191
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
25601412
2015
rs121918191
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
9382095
1997
rs121918191
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
12126934
2002
rs121918192
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
12126934
2002
rs121918192
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.
25601412
2015
rs121918192
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
9382095
1997
rs766005419
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
0.800
GeneticVariation
UNIPROT
rs566453434
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
0.710
GeneticVariation
BEFREE
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency : Identification of a frequent variant (E281K ).
29774539
2018
rs121918188
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Hypoglycemia
0.010
GeneticVariation
BEFREE
Gene tracking within the family revealed that his elder sister had a heterozygous G164S mutation without symptoms of hypoglycemia .
20096900
2011
rs766005419
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
A
0.800
CausalMutation
CLINVAR
rs566453434
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
A
0.710
CausalMutation
CLINVAR
rs121918190
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
A
0.700
CausalMutation
CLINVAR
rs1563983184
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
A
0.700
GeneticVariation
CLINVAR
rs757653154
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
AC
0.700
CausalMutation
CLINVAR
rs121918192
FBP1;PCAT7
Fructose-1,6-Diphosphatase Deficiency
C
0.800
CausalMutation
CLINVAR
rs1563984164
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
C
0.700
GeneticVariation
CLINVAR
rs1563991556
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
C
0.700
CausalMutation
CLINVAR
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.
27101822
2016
rs761470205
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
C
0.700
CausalMutation
CLINVAR
rs761470205
×
Entrez Id:
2203
Gene Symbol:
FBP1
FBP1
Fructose-1,6-Diphosphatase Deficiency
C
0.700
GeneticVariation
CLINVAR