Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.I49T
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POT1

NM_015450.3:p.I49T

Associated Papers

CCNF (Cyclin F) as a Candidate Gene for Familial Hodgkin Lymphoma: Additional Evidence for the Importance of Mitotic Checkpoint Defects in Tumorigenesis.

Khoury E et al.

Hemasphere, 2023

38026792 (PubMed )
Supplement: hs9-7-e985-s001.xlsx › Suppl_Table_S5

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

Speedy HE et al.

Blood, 2016

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Puig S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."