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Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants.
Ferrer, Alejandro; Lasho, Terra; Fernandez, Jenna A; Steinauer, Nickolas P; Simon, Rachel A; Finke, Christy M; Carmona, Eva M; Wylam, Mark E; Ongie, Laura J; Burnap, Brittany N; Arana Yi, Cecilia; Sproat, Lisa Z; Foran, James; Badar, Talha; Mangaonkar, Abhishek A; Patnaik, Mrinal M.
Am J Hematol ; 98(12): E357-E359, 2023 12.
Article in English | MEDLINE | ID: mdl-37665761

ABSTRACT

Somatic mosaic states in telomere biology disorders are characterized by somatic variants in the spliceosome and DNA damage response and repair pathways. A likely maladaptive response to short telomeres that may lead to increased hematological cancer.


Subject(s)
Telomerase , Telomere , Humans , Splicing Factor U2AF/genetics , Telomere/genetics , Telomere/metabolism , Biology , Telomerase/genetics , Telomerase/metabolism
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