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GENE - TERM ANNOTATION REPORT

RGD ID: 10297
Species: Mus musculus
RGD Object: Gene
Symbol: Cbs
Name: cystathionine beta-synthase
Acc ID: DOID:0080465
Term: developmental and epileptic encephalopathy 30
Definition: A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25839329 "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)
Cbs ISOCBS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30PMID:28492532 PMID:8596935
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