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GENE - TERM ANNOTATION REPORT

CRRD ID: 12535912
Species: Ictidomys tridecemlineatus
CRRD Object: Gene
Symbol: Gabrb1
Name: gamma-aminobutyric acid type A receptor beta1 subunit
Acc ID: DOID:0080428
Term: early infantile epileptic encephalopathy 45
Definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)
Definition Source(s): url:https://www.ncbi.nlm.nih.gov/pubmed/23934111 "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gabrb1 ISORGD:7310637240710OMIM  
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