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Li-Fraumeni syndrome 2

Summary
Synonym
  • LFS2
Definition
A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.
Super Class
Li-Fraumeni syndrome
Disease Ontology
DOID:0111504
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11200 CHEK2 checkpoint kinase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O96017 Serine/threonine-protein kinase Chk2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025