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GENE - TERM ANNOTATION REPORT

RGD ID: 62072
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc18a3
Name: solute carrier family 18 member A3
Acc ID: DOID:0110671
Term: congenital myasthenic syndrome 6
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11172068 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12756141 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "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)
Slc18a3 ISOSLC18A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial infantile myastheniaPMID:21948486 PMID:25741868 PMID:28492532
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