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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8563885
Species: Homo sapiens
RGD Object: Variant
Symbol: CV28846
Name: NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
Acc ID: DOID:9002854
Term: Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia
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)
CV28846 IAGP 8554872ClinVarClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaPMID:20619386 PMID:24458550 PMID:25358541 PMID:25741868 PMID:28492532
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