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GENE - TERM ANNOTATION REPORT

RGD ID: 1317578
Species: Mus musculus
RGD Object: Gene
Symbol: Trp53bp1
Name: transformation related protein 53 binding protein 1
Acc ID: DOID:0080107
Term: microcephaly and chorioretinopathy 3
Definition: A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25344692 "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)
Trp53bp1 ISOTP53BP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532
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