Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.F238fs
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PTEN

NM_000314.8:p.F238fs

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

Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.

Verdugo-Sivianes EM et al.

Theranostics, 2021

33537097 (PubMed )
Supplement: thnov11p3452s1.pdf

Cutaneous lipomas and macrocephaly as early signs of PTEN hamartoma tumor syndrome.

Martin H et al.

Pediatric Dermatology, 2020

Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Saadeh FS et al.

Plos One, 2020

33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1
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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."