Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E291fs
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PTEN

NM_000314.8:p.E291fs

Associated Papers

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

Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Yehia L et al.

Npj Genomic Medicine, 2022

35241692 (PubMed )
Supplement: 41525_2022_289_MOESM1_ESM.pdf

Alterations in PTEN and ESR1 promote clinical resistance to alpelisib plus aromatase inhibitors.

Razavi P et al.

Nature Cancer, 2020

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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."