Article

Evaluations of short telomere risk-associated single nucleotide polymorphisms in telomerase reverse transcriptase gene on telomere length maintenance

2019-02-15

Abstract excerpt

<h4>ABSTRACT</h4> Telomere biology disorders (TBDs) refer to a spectrum of tissue degenerative disorders caused by genetic mutations in telomere biology genes. Most patients with TBDs suffer from telomere maintenance defects secondary to telomerase deficiency. While the highly penetrant mutations in the telomerase reverse transcriptase ( TERT ) gene that drive disease onset and progression of TBDs are relatively...

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Literature Corpus work: 5f3413e8-5629-574f-9a51-ff1e80c13985
DOI: 10.1101/552133

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