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Article

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

26 Dec 2018

Abstract excerpt

Importance: The protection of telomeres 1 protein (POT1) is a critical component of the shelterin complex, a multiple-protein machine that regulates telomere length and protects telomere ends. Germline variants in POT1 have been linked to familial melanoma, and somatic mutations are associated with a range of cancers including cutaneous T-cell lymphoma (CTCL). Objective: To characterize pathogenic variation in...

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Share to Cutaneous Melanoma Detection and Management
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Identifiers

PMID: 30586141
DOI: 10.1001/jamadermatol.2018.3662

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