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GENE - TERM ANNOTATION REPORT

RGD ID: 1359096
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nfatc2ip
Name: nuclear factor of activated T-cells 2 interacting protein
Acc ID: DOID:0070515
Term: chromosome 16p11.2 deletion syndrome, 593-kb
Definition: A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19914906/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK11167/ "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)
Nfatc2ip ISONFATC2IP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndromePMID:25741868 PMID:31690835 PMID:32238909
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