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GENE - TERM ANNOTATION REPORT

RGD ID: 3596
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rps29
Name: ribosomal protein S29
Acc ID: DOID:0111889
Term: Diamond-Blackfan anemia 13
Definition: A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)
Definition Source(s): PMID:24829207 "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)
Rps29 ISORPS29 (Homo sapiens)7240710OMIM  
Rps29 ISORPS29 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Diamond-Blackfan anemia 13 | ClinVar Annotator: match by term: RPS29-related conditionPMID:24829207 PMID:25741868 PMID:28492532
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