Article

A novel germline mutation in the <i>POT1</i> gene predisposes to familial non-medullary thyroid cancer

2020-03-29

Abstract excerpt

Non-medullary thyroid cancer (NMTC) is a common endocrine malignancy with a genetic basis that has yet to be unequivocally established. In a recent whole genome sequencing study of five families with recurrence of NMTCs, we shortlisted promising variants with the help of bioinformatics tools. Here, we report in silico analyses and in vitro experiments on a novel germline variant (p.V29L) in the highly conserved...

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Identifiers and source

Literature Corpus work: f2563fd5-734d-5957-81bd-1b38f7cb200a
DOI: 10.1101/2020.03.23.004663

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A novel germline mutation in the <i>POT1</i> gene predisposes to familial non-medullary thyroid cancerDOI 10.1101/2020.03.23.004663Read

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