GLUT1 deficiency genetic test
GPTKB entity
Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic test
|
| gptkbp:detectsMutationIn |
gptkb:SLC2A1_gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
GLUT1 deficiency genetic test
|
| gptkbp:method |
DNA sequencing
deletion/duplication analysis |
| gptkbp:order |
gptkb:neuroscientist
|
| gptkbp:relatedTo |
patients with movement disorders
patients with developmental delay patients with unexplained epilepsy |
| gptkbp:testedBy |
gptkb:GLUT1_deficiency_syndrome
|
| gptkbp:type |
blood
|
| gptkbp:usedForDiagnosisOf |
gptkb:GLUT1_deficiency_syndrome
|
| gptkbp:bfsParent |
gptkb:glucose_transporter_1_(GLUT1)
|
| gptkbp:bfsLayer |
7
|