Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.N75fs
Back to variants list

POT1

NM_015450.3:p.N75fs

Associated Papers

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

Zade NH et al.

Journal of Cellular Physiology, 2023

POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Shen E et al.

Journal of Medical Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."