Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.R80C
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POT1

NM_015450.3:p.R80C

Associated Papers

Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.

Simonin-Wilmer I et al.

Journal of Medical Genetics, 2023

36539277 (PubMed )
Supplement: jmg-2022-108776supp006.xlsx › Supplementary_Table_2_newID

POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.

Zade NH et al.

Journal of Cellular Physiology, 2023

Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles.

Deng X et al.

Frontiers in Oncology, 2023

36874132 (PubMed )
Supplement: Table_1.xlsx › Sheet1

IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Li Q et al.

Frontiers in Oncology, 2022

35720006 (PubMed )
Supplement: Table_2.xlsx › Sheet1

A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.

Nathan V et al.

British Journal of Haematology, 2021

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

Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.

Müller C et al.

G3 (bethesda, Md.), 2018

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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."