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GENE - TERM ANNOTATION REPORT

RGD ID: 1322508
Species: Mus musculus
RGD Object: Gene
Symbol: Vps13b
Name: vacuolar protein sorting 13B
Acc ID: DOID:9007653
Term: Multiple Abnormalities
Definition: Congenital abnormalities that affect more than one organ or body structure.
Definition Source(s): MESH:D000015
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)
Vps13bsusceptibilityISOVPS13B (Homo sapiens)9068941RGDCohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutationPMID:12730828 REF_RGD_ID:1357205
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