Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.V235I
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POT1

NM_015450.3:p.V235I

Associated Papers

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.

Chevrier S et al.

Clinical and Translational Medicine, 2025

39783935 (PubMed )
Supplement: CTM2-15-e70138-s002.docx

Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.

Andreotti V et al.

Genes, 2024

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Lim TL et al.

Leukemia, 2022

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