Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.M5I
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TERF2IP

NM_018975.4:p.M5I

Associated Papers

Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.

Malińska K et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2020

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › MultCaCa_AD

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.

Aoude LG et al.

Journal of the National Cancer Institute, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."