Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.S113_D115delFs
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PTEN

NM_000314.8:p.S113_D115delFs

Associated Papers

High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.

Hernandez PV et al.

American Journal of Medical Genetics. Part A, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

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."