Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.G108R
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POT1

NM_015450.3:p.G108R

Associated Papers

Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants.

Nielsen EN et al.

Journal of Medical Genetics, 2026

The biology and management of dyskeratosis congenita and related disorders of telomeres.

Tummala H et al.

Expert Review of Hematology, 2022

Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres.

Cantara S et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

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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."