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GENE - TERM ANNOTATION REPORT

RGD ID: 1311592
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rapsn
Name: receptor-associated protein of the synapse
Acc ID: DOID:0110679
Term: congenital myasthenic syndrome 4C
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8957026 "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.
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