Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.D598fs
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POT1

NM_015450.3:p.D598fs

Associated Papers

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.

Jiang YJ et al.

Frontiers in Oncology, 2024

Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.

Goldstein AM et al.

Jaad International, 2023

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

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

Shen E et al.

Journal of Medical Genetics, 2020

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

Potrony M et al.

The British Journal of Dermatology, 2019

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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."