Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.Q191R
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TERF2IP

NM_018975.4:p.Q191R

Associated Papers

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Fiasconaro CA et al.

Diseases (basel, Switzerland), 2025

Germline Variants in Childhood Cutaneous Melanoma.

Johansson PA et al.

The Journal of Investigative Dermatology, 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

Melanoma genetics.

Read J et al.

Journal of Medical Genetics, 2016

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."