Varaico: Literature-Extracted Genetic Variants

Gene:TERF2IP
Variant:p.R133Q
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TERF2IP

NM_018975.4:p.R133Q

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

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.

Speedy HE et al.

Blood, 2016

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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."