Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.Y66*
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POT1

NM_015450.3:p.Y66*

Associated Papers

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Amir M et al.

Cells, 2020

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

Speedy HE et al.

Blood, 2016

The shelterin complex and hematopoiesis.

Jones M et al.

The Journal of Clinical Investigation, 2016

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.

Ramsay AJ et al.

Nature Genetics, 2013

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.

Quesada V et al.

Nature Genetics, 2011

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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."