Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.R364*
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TERF2IP

NM_018975.4:p.R364*

Associated Papers

Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases.

Silva-Rodríguez P et al.

Journal of Clinical Medicine, 2024

Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

Ballinger ML et al.

Science (new York, N.y.), 2023

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

Genetics of familial melanoma: 20 years after CDKN2A.

Aoude LG et al.

Pigment Cell & Melanoma Research, 2015

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."