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GENE - TERM ANNOTATION REPORT

RGD ID: 1332439
Species: Mus musculus
RGD Object: Gene
Symbol: Arfgef2
Name: ADP ribosylation factor guanine nucleotide exchange factor 2
Acc ID: DOID:9002205
Term: Periventricular Nodular Heterotopia 2
Definition: null
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)
Arfgef2 ISOARFGEF2 (Homo sapiens)1300288RGDDNA:missense mutations, deletion:exon:multiple 
Arfgef2 ISOARFGEF2 (Homo sapiens)7240710OMIM  
Arfgef2 ISOARFGEF2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Arfgef2 ISOARFGEF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessivePMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 PMID:23812912 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27535533 PMID:28492532 PMID:9536098
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