|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
|
25356975 |
2014 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.
|
21629566 |
2011 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.
|
21629566 |
2011 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glycogen storage disease type Ib: the first case in Taiwan.
|
19579760 |
2009 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glycogen storage disease type Ib: the first case in Taiwan.
|
19579760 |
2009 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.
|
18835800 |
2008 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
|
15953877 |
2005 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
|
15953877 |
2005 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
|
15669677 |
2004 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
|
15059622 |
2004 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
|
15669677 |
2004 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
|
15059622 |
2004 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.
|
12409273 |
2002 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
|
11949931 |
2002 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
A |
0.800 |
CausalMutation |
CLINVAR |
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
|
12444104 |
2002 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
|
11949931 |
2002 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.
|
12409273 |
2002 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
|
10923042 |
2000 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis in glycogen storage disease type 1 non-a.
|
11071391 |
2000 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
|
10874322 |
2000 |
|
rs121908980
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glycogen storage disease type Ib without neutropenia.
|
10931421 |
2000 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
A |
0.800 |
CausalMutation |
CLINVAR |
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
|
10940311 |
2000 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glycogen storage disease type Ib without neutropenia.
|
10931421 |
2000 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
|
10923042 |
2000 |
|
rs80356490
|
SLC37A4;TRAPPC4
|
Glucose-6-phosphate transport defect
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
|
10874322 |
2000 |