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GENE - TERM ANNOTATION REPORT

RGD ID: 1566416
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dok7
Name: docking protein 7
Acc ID: DOID:0110683
Term: congenital myasthenic syndrome 18
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25381298 "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)
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