Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D162delFs
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PTEN

NM_000314.8:p.D162delFs

Associated Papers

Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.

Shelkowitz E et al.

Pediatric Neurology, 2023

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.

Broncy L et al.

Oncotarget, 2018

Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.

Adachi T et al.

Internal Medicine (tokyo, Japan), 2018

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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."