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GENE - TERM ANNOTATION REPORT

RGD ID: 18414388
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: EXOSC3
Name: exosome component 3
Acc ID: DOID:0111377
Term: fetal akinesia deformation sequence syndrome 1
Definition: A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25537362 "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)
EXOSC3 ISOEXOSC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fetal akinesia deformation sequence 1PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30221345
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