Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.P30delFs
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PTEN

NM_000314.8:p.P30delFs

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

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Reuter MS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037394 (PubMed )
Supplement: 41436_2020_757_MOESM1_ESM.docx

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

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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."