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GENE - TERM ANNOTATION REPORT

RGD ID: 731777
Species: Mus musculus
RGD Object: Gene
Symbol: Kcnq1
Name: potassium voltage-gated channel, subfamily Q, member 1
Acc ID: DOID:0060696
Term: hyperekplexia 1
Definition: A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7881416 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8298642 "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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