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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13612815
Species: Homo sapiens
RGD Object: Variant
Symbol: CV432220
Name: NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)
Acc ID: DOID:9008582
Term: Developmental Disease
Definition: Mental or physical disorders that usually manifest during the equivalent of human childhood or teenage years.
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)
CV432220 IAGP 8554872ClinVarClinVar Annotator: match by term: Developmental disorderPMID:25741868 PMID:28492532 PMID:29269699 PMID:29706646
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