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GENE - TERM ANNOTATION REPORT

RGD ID: 1311764
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cpa6
Name: carboxypeptidase A6
Acc ID: DOID:0110990
Term: Joubert syndrome 21
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24360808 "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)
Cpa6 ISOCPA6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 21PMID:24360807 PMID:24360808 PMID:28492532
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