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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8597259
Species: Homo sapiens
RGD Object: Variant
Symbol: CV21804
Name: NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
Acc ID: DOID:9007183
Term: Premature Chromatid Separation Trait
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)
CV21804 IAGP 8554872ClinVarClinVar Annotator: match by term: Premature chromatid separation traitPMID:15475955 PMID:18548531 PMID:20516114 PMID:25741868 PMID:28492532 PMID:31738183
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