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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8693063
Species: Homo sapiens
RGD Object: Variant
Symbol: CV143028
Name: NM_014467.3(SRPX2):c.1218-6C>T
Acc ID: DOID:9008407
Term: ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
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)
CV143028 IAGP 8554872ClinVarClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linkedPMID:28492532
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