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GENE - TERM ANNOTATION REPORT

RGD ID: 731859
Species: Mus musculus
RGD Object: Gene
Symbol: Nf2
Name: neurofibromin 2
Acc ID: DOID:0070480
Term: schwannomatosis 1
Definition: A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19582488/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO" "DO"
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)
Nf2 ISONF2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Schwannomatosis 1PMID:25741868 PMID:7798645 PMID:9399891
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