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Gene Symbol POT1
Synonyms CMM10 | CRMCC3 | GLM9 | HPOT1 | PFBMFT8 | TPDS3
Gene Description POT1, protection of telomeres 1, is involved in unfolding telomeric G-quadruplex structures, thereby regulating telomeres and chromosome stability (PMID: 32232414). Germline mutations in POT1 have been implicated in melanoma (PMID: 32283231, PMID: 32249949), glioma, and cardiac angiosarcoma (PMID: 26403419, PMID: 31937561).
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