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GENE - TERM ANNOTATION REPORT

RGD ID: 628645
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Brs3
Name: bombesin receptor subtype 3
Acc ID: DOID:0060825
Term: Christianson syndrome
Definition: A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18342287 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20949524 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25044251 "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)
Brs3 ISOBRS3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Christianson syndromePMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532
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