Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.L343F
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POT1

NM_015450.3:p.L343F

Associated Papers

Dissecting the oncogenic mechanisms of POT1 cancer mutations through deep scanning mutagenesis.

Martin A et al.

Biorxiv : the Preprint Server for Biology, 2024

POT1-TPP1 telomere length regulation and disease.

Aramburu T et al.

Computational and Structural Biotechnology Journal, 2020

Structural and functional analysis of the human POT1-TPP1 telomeric complex.

Rice C et al.

Nature Communications, 2017

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.

Ramsay AJ et al.

Nature Genetics, 2013

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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."