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GENE - TERM ANNOTATION REPORT

RGD ID: 8963976
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Rgs12
Name: regulator of G protein signaling 12
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)
Rgs12 ISORGS12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fetal akinesia deformation sequence 1PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
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