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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POT1

Variant:p.Q94fs

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POT1

NM_015450.3:p.Q94fs

hg38:chr7:124863616 CTG>N

Associated Papers

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

Repo PE et al.

Pigment Cell & Melanoma Research, 2025

40956002 (PubMed )

Loss-of-function variants in POT1 predispose to uveal melanoma.

Nathan V et al.

Journal of Medical Genetics, 2021

32907878 (PubMed )

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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."