Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K313delFs
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PTEN

NM_000314.8:p.K313delFs

Associated Papers

Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.

Johnson TA et al.

Human Molecular Genetics, 2023

35981075 (PubMed )
Supplement: johnsonta_datas2_ddac180.zip › JohnsonTA_DataS2_ddac180.pdf

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

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

PTEN: one gene, many syndromes.

Eng C

Human Mutation, 2003

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR et al.

European Journal of Human Genetics : Ejhg, 1999

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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."