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GENE - TERM ANNOTATION REPORT

RGD ID: 8729020
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Serpinf1
Name: serpin family F member 1
Acc ID: DOID:0110350
Term: osteogenesis imperfecta type 6
Definition: An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21353196 "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)
Serpinf1 ISOSERPINF1 (Homo sapiens)7240710OMIM  
Serpinf1 ISOSERPINF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 6 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type VIPMID:17576681 PMID:21353196 PMID:21826736 PMID:23054245 PMID:25565926 PMID:25741868 PMID:27056980 PMID:27796462 PMID:28116328 PMID:28492532 PMID:29150909 PMID:29620724 PMID:30715774 PMID:30968248 PMID:32770541 PMID:35261846 PMID:37270749 PMID:9536098
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