Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D331fs
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PTEN

NM_000314.8:p.D331fs

Associated Papers

PTEN Hamartoma Tumor Syndrome/Cowden Syndrome With Diffuse Sebaceous Gland Hyperplasia: Description of an Atypical Phenotype and a Previously Undescribed Pathogenic Variant.

Soto-Moreno A et al.

The Journal of Dermatology, 2025

PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.

Xue S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

33828082 (PubMed )
Supplement: 41419_2021_3657_MOESM15_ESM.pdf
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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."