Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D324delFs
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PTEN

NM_000314.8:p.D324delFs

Associated Papers

Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.

Baroutis KG et al.

Eye (london, England), 2025

Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.

Hartsough E et al.

American Journal of Clinical Pathology, 2024

A Targeted Next-Generation Sequencing Panel to Genotype Gliomas.

Guarnaccia M et al.

Life (basel, Switzerland), 2022

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R et al.

Journal of Medical Genetics, 2011

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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."