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GENE - TERM ANNOTATION REPORT

RGD ID: 14063062
Species: Sus scrofa
RGD Object: Gene
Symbol: SPAG8
Name: sperm associated antigen 8
Acc ID: DOID:0081422
Term: familial focal epilepsy with variable foci 2
Definition: A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26505888/ "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)
SPAG8 ISOSPAG8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2PMID:25387261 PMID:25741868 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:32720985
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