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GENE - TERM ANNOTATION REPORT

RGD ID: 9016582
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Bbs12
Name: Bardet-Biedl syndrome 12
Acc ID: DOID:0110123
Term: Bardet-Biedl syndrome 1
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20177705 "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)
Bbs12 ISOBBS12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndrome 1PMID:17160889 PMID:20498079 PMID:22025579 PMID:22773737 PMID:23591405 PMID:25741868 PMID:25780760 PMID:28492532 PMID:30614526 PMID:31196119
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