Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.I49fs
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POT1

NM_015450.3:p.I49fs

Associated Papers

Clinical, genetic, and familial features of POT1 tumor predisposition syndrome.

DiNardo CD et al.

Cancer, 2026

Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population.

Alzahrani AS et al.

Thyroid : Official Journal of the American Thyroid Association, 2025

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma.

Jajosky AN et al.

Genes, 2022

Clinical Utility of Targeted Next-Generation Sequencing in the Evaluation of Low-Grade Lymphoproliferative Disorders.

Jajosky AN et al.

American Journal of Clinical Pathology, 2021

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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."