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GENE - TERM ANNOTATION REPORT
RGD ID:
8851058
Species:
Chinchilla lanigera
RGD Object:
Gene
Symbol:
Chek2
Name:
checkpoint kinase 2
Acc ID:
DOID:0111503
Term:
Li-Fraumeni syndrome 1
Definition:
A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. (DO)
Definition Source(s):
https://www.ncbi.nlm.nih.gov/pubmed/1978757
"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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
Chek2
ISO
CHEK2 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Li-Fraumeni syndrome 1
PMID:10617473
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PMID:37449874
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