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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:0110666
Term: congenital myasthenic syndrome 3A
Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11782989 "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)
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