Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.S250*
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POT1

NM_015450.3:p.S250*

Associated Papers

All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.

López-Oreja I et al.

Hemasphere, 2023

37746159 (PubMed )
Supplement: hs9-7-e962-s002.xlsx › Table_S6

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

Amir M et al.

Cells, 2020

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

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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."